Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
NEU4	129807	broad.mit.edu	37	2	242757727	242757727	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr2:242757727C>A	ENST00000391969.2	+	5	1519	c.808C>A	c.(808-810)Ccc>Acc	p.P270T	NEU4_ENST00000325935.6_Missense_Mutation_p.P283T|NEU4_ENST00000407683.1_Missense_Mutation_p.P270T|NEU4_ENST00000404257.1_Missense_Mutation_p.P282T|NEU4_ENST00000405370.1_Missense_Mutation_p.P270T	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	270						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding	p.P282T(1)		breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		GGCTTCCCTGCCCGAGACTGC	0.706000													5	10					3.59834e-05	4.41225e-05	0.001168	1	0
MED12	9968	broad.mit.edu	37	X	70342990	70342990	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chrX:70342990G>T	ENST00000333646.6	+	11	1730	c.1531G>T	c.(1531-1533)Gct>Tct	p.A511S	MED12_ENST00000374102.1_Missense_Mutation_p.A511S|MED12_ENST00000374080.3_Missense_Mutation_p.A511S	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	511					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.A511S(2)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					ATGTGAATGGGCTGTCAGCTG	0.527000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						39	234					1.96642e-18	3.60073e-18	0.006999	1	0
GFRAL	389400	broad.mit.edu	37	6	55214930	55214930	+	Silent	SNP	A	A	C			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr6:55214930A>C	ENST00000340465.2	+	4	443	c.357A>C	c.(355-357)acA>acC	p.T119T		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	119						integral to membrane	receptor activity	p.T119T(1)		NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ATCTAACTACACGTTCCCATC	0.299000													6	23					0	0	0.001984	0	0
SYT16	83851	broad.mit.edu	37	14	62462844	62462844	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr14:62462844C>A	ENST00000430451.2	+	1	304	c.107C>A	c.(106-108)tCt>tAt	p.S36Y	SYT16_ENST00000446982.2_Missense_Mutation_p.S36Y	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	36								p.S36Y(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GATATGTTATCTGCTTCGCTG	0.413000													19	62					3.51602e-12	5.74841e-12	0.008871	1	0
VAV3	10451	broad.mit.edu	37	1	108507486	108507486	+	Silent	SNP	C	C	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr1:108507486C>T	ENST00000370056.4	-	1	280	c.6G>A	c.(4-6)gaG>gaA	p.E2E	VAV3_ENST00000527011.1_Silent_p.E2E|VAV3-AS1_ENST00000438318.1_RNA	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	2	CH.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	p.E2E(1)		NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		GCTTCCACGGCTCCATGCCCG	0.746000													3	5					0	0	0.004672	0	0
ZNF813	126017	broad.mit.edu	37	19	53994225	53994225	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr19:53994225G>T	ENST00000396403.4	+	4	867	c.739G>T	c.(739-741)Gta>Tta	p.V247L	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	247					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V247L(1)		large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		TAAATGTGATGTATGTGGCAA	0.393000													15	75					0.00498961	0.00539559	0.004990	1	0
MAGEA12	4111	broad.mit.edu	37	X	151899893	151899893	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chrX:151899893G>T	ENST00000393900.3	-	3	1261	c.908C>A	c.(907-909)cCc>cAc	p.P303H	MAGEA12_ENST00000393869.3_Missense_Mutation_p.P303H|MAGEA12_ENST00000357916.4_Missense_Mutation_p.P303H|CSAG4_ENST00000361201.4_RNA	NM_001166386.1	NP_001159858.1	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	303	MAGE.							p.P303H(1)		breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TTCATGCAGGGGTGGGTAGGA	0.567000													19	252					1.55795e-14	2.69695e-14	0.012319	1	0
MACROD2	140733	broad.mit.edu	37	20	16025241	16025241	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr20:16025241G>T	ENST00000402914.1	+	13	1014	c.552G>T	c.(550-552)aaG>aaT	p.K184N	MACROD2_ENST00000217246.4_Intron|MACROD2_ENST00000407045.3_Missense_Mutation_p.K70N|MACROD2_ENST00000378058.3_Missense_Mutation_p.K184N|MACROD2_ENST00000310348.4_Missense_Mutation_p.K419N	NM_001033087.1	NP_001028259.1	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	419	Macro.							p.K184N(1)		breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				AGGTTGACAAGGTAAATGACC	0.343000													13	35					5.01169e-05	6.10893e-05	0.004990	1	0
ITGA4	3676	broad.mit.edu	37	2	182359483	182359483	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr2:182359483G>C	ENST00000397033.2	+	12	1713	c.1283G>C	c.(1282-1284)aGt>aCt	p.S428T		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	428					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	p.S428T(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	AAATCGTTAAGTATGTTTGGA	0.313000													30	109					0	0	0.004289	0	0
HNRNPR	10236	broad.mit.edu	37	1	23648100	23648100	+	Silent	SNP	T	T	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr1:23648100T>A	ENST00000478691.1	-	6	700	c.429A>T	c.(427-429)gcA>gcT	p.A143A	HNRNPR_ENST00000606561.1_Silent_p.A105A|HNRNPR_ENST00000374616.3_Silent_p.A244A|HNRNPR_ENST00000302271.6_Silent_p.A244A|HNRNPR_ENST00000427764.2_Silent_p.A206A|HNRNPR_ENST00000426846.2_Silent_p.A84A|HNRNPR_ENST00000374612.1_Silent_p.A244A	NM_001102397.1|NM_001102399.1	NP_001095867.1|NP_001095869.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	244	Asp/Glu-rich (acidic).					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	p.A244A(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		GTCTGTTGTTTGCCACAGAAA	0.383000													46	195					0	0	0.003610	0	0
CRHBP	1393	broad.mit.edu	37	5	76249973	76249973	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr5:76249973C>A	ENST00000274368.4	+	3	717	c.295C>A	c.(295-297)Cag>Aag	p.Q99K	CRHBP_ENST00000506501.1_Missense_Mutation_p.Q99K	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein	99					female pregnancy|learning or memory|signal transduction	soluble fraction		p.Q99K(1)		kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		CCACTACGACCAGGTCTCCAT	0.657000													6	80					0.00198382	0.00217955	0.001984	1	0
KMT2D	8085	broad.mit.edu	37	12	49435239	49435239	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr12:49435239C>T	ENST00000301067.7	-	31	6313	c.6314G>A	c.(6313-6315)cGc>cAc	p.R2105H		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D									p.R1835H(2)|p.R2105H(2)									CGGGGGAATGCGGAGATGTAG	0.652000													5	61					0	0	0.000602	0	0
INO80D	54891	broad.mit.edu	37	2	206869874	206869874	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr2:206869874T>A	ENST00000403263.1	-	11	2706	c.2302A>T	c.(2302-2304)Act>Tct	p.T768S		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	768					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.T663S(1)|p.T768S(1)		NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						CTGATCAGAGTGGCAGAAGTA	0.597000													6	88					0	0	0.001984	0	0
ARL4D	379	broad.mit.edu	37	17	41477386	41477386	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr17:41477386G>T	ENST00000320033.4	+	2	493	c.286G>T	c.(286-288)Ggt>Tgt	p.G96C		NM_001661.3	NP_001652.2	P49703	ARL4D_HUMAN	ADP-ribosylation factor-like 4D	96					protein secretion|small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|GTPase activity|protein binding	p.G96C(1)|p.D95>?(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.155)		CCGGACAGACGGTCTAGTGTT	0.662000													16	84					5.26018e-13	8.77406e-13	0.012319	1	0
TANGO6	79613	broad.mit.edu	37	16	68894053	68894053	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr16:68894053C>T	ENST00000261778.1	+	2	373	c.361C>T	c.(361-363)Ccc>Tcc	p.P121S		NM_024562.1	NP_078838.1			transport and golgi organization 6 homolog (Drosophila)									p.P121S(1)									TCCAGGTAAACCCAACCCTAG	0.468000													46	280					0	0	0.003610	0	0
MAGEE1	57692	broad.mit.edu	37	X	75649077	75649077	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chrX:75649077C>A	ENST00000361470.2	+	1	1032	c.754C>A	c.(754-756)Cgt>Agt	p.R252S		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	252	Pro-rich.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		p.R252S(2)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						GCCACCCACCCGTGATGAGGG	0.697000													10	28					6.40141e-05	7.73426e-05	0.010729	1	0
DNAH9	1770	broad.mit.edu	37	17	11757701	11757701	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr17:11757701A>T	ENST00000262442.3	+	50	9957	c.9889A>T	c.(9889-9891)Aca>Tca	p.T3297S	DNAH9_ENST00000454412.2_Missense_Mutation_p.T3297S	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3297	Stalk (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.T3297S(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CGCGGACCTCACAGCTGCCCA	0.557000													13	58					0	0	0.002450	0	0
SNTG1	54212	broad.mit.edu	37	8	51362272	51362272	+	Silent	SNP	C	C	G			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr8:51362272C>G	ENST00000522124.1	+	6	925	c.264C>G	c.(262-264)tcC>tcG	p.S88S	SNTG1_ENST00000517473.1_Silent_p.S88S|SNTG1_ENST00000276467.5_Silent_p.S88S|SNTG1_ENST00000518864.1_Silent_p.S88S	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	88	PDZ.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	p.S88S(2)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				CAAAAATCTCCAAGGAACAAA	0.313000													5	27					0	0	0.000602	0	0
ANK2	287	broad.mit.edu	37	4	114279344	114279344	+	Silent	SNP	A	A	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr4:114279344A>T	ENST00000357077.4	+	38	9623	c.9570A>T	c.(9568-9570)gtA>gtT	p.V3190V	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Silent_p.V3157V	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3157					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.V3190V(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GTGAGGAAGTAGAGGAAATAC	0.458000													8	60					0	0	0.006214	0	0
KAT6B	23522	broad.mit.edu	37	10	76781967	76781967	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr10:76781967A>T	ENST00000287239.4	+	16	3839	c.3350A>T	c.(3349-3351)cAg>cTg	p.Q1117L	KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372724.1_Missense_Mutation_p.Q825L|RP11-77G23.2_ENST00000413431.1_RNA|KAT6B_ENST00000372725.1_Missense_Mutation_p.Q825L|KAT6B_ENST00000372714.1_Missense_Mutation_p.Q825L|KAT6B_ENST00000372711.1_Missense_Mutation_p.Q934L	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	1117					histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	p.Q1117L(1)									ACGAAACCACAGTCAGTTGCC	0.398000											OREG0020273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	35	188					0	0	0.008740	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84608122	84608122	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr9:84608122A>T	ENST00000344803.2	+	4	2784	c.2737A>T	c.(2737-2739)Agg>Tgg	p.R913W		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1									p.R913W(2)									TTTCCGTATGAGGATGCTGTG	0.458000													12	47					0	0	0.010729	0	0
SALL1	6299	broad.mit.edu	37	16	51173271	51173271	+	Silent	SNP	G	G	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr16:51173271G>A	ENST00000440970.1	-	2	3002	c.2571C>T	c.(2569-2571)agC>agT	p.S857S	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Silent_p.S954S	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	954					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S954S(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TGGCAAACTCGCTTGGGACCG	0.517000													9	60					0	0	0.008291	0	0
FOCAD	54914	broad.mit.edu	37	9	20926351	20926351	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr9:20926351A>T	ENST00000380249.1	+	28	3377	c.3013A>T	c.(3013-3015)Aca>Tca	p.T1005S	FOCAD_ENST00000338382.6_Missense_Mutation_p.T1005S|FOCAD_ENST00000605086.1_Missense_Mutation_p.T441S	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN	focadhesin	1005						integral to membrane	binding	p.T1005S(1)									GGTACTTGATACACTCTTGGT	0.348000													13	103					0	0	0.001855	0	0
COL3A1	1281	broad.mit.edu	37	2	189868184	189868184	+	Silent	SNP	T	T	C			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr2:189868184T>C	ENST00000304636.3	+	37	2771	c.2601T>C	c.(2599-2601)ggT>ggC	p.G867G	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	867	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.G867G(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GCAGTCCTGGTGGACCTGTAA	0.378000													6	40					0	0	0.001984	0	0
OR1C1	26188	broad.mit.edu	37	1	247921322	247921322	+	Silent	SNP	G	G	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr1:247921322G>A	ENST00000408896.2	-	1	660	c.387C>T	c.(385-387)ccC>ccT	p.P129P		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P129P(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TGTAATGTAAGGGGTGGCAAA	0.502000													11	65					0	0	0.010729	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112898590	112898590	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr9:112898590C>A	ENST00000374530.3	+	8	946	c.766C>A	c.(766-768)Cat>Aat	p.H256N	AKAP2_ENST00000555236.1_Missense_Mutation_p.H256N|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.H256N|AKAP2_ENST00000434623.2_Missense_Mutation_p.H114N|AKAP2_ENST00000510514.5_Missense_Mutation_p.H256N|AKAP2_ENST00000374525.1_Missense_Mutation_p.H114N|AKAP2_ENST00000259318.7_Missense_Mutation_p.H25N	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		25							enzyme binding	p.H114N(1)|p.H256N(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						TCCCATGGACCATCCCTCCGC	0.478000													37	179					1.07121e-22	2.05273e-22	0.006999	1	0
ABCA9	10350	broad.mit.edu	37	17	66986013	66986013	+	Missense_Mutation	SNP	C	C	A	rs149991432		TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr17:66986013C>A	ENST00000340001.4	-	30	4107	c.3896G>T	c.(3895-3897)tGc>tTc	p.C1299F	ABCA9_ENST00000370732.2_Missense_Mutation_p.C1299F|ABCA9_ENST00000453985.2_Missense_Mutation_p.C1261F	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1299	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity	p.C1299F(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TTTAGAAAAGCAATTTTTCTT	0.358000													13	106					7.03913e-09	1.01403e-08	0.001368	1	0
PROS1	5627	broad.mit.edu	37	3	93605343	93605343	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr3:93605343G>A	ENST00000394236.3	-	11	1476	c.1160C>T	c.(1159-1161)tCt>tTt	p.S387F	PROS1_ENST00000407433.1_Missense_Mutation_p.S256F	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	387	Laminin G-like 1.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	p.S387F(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	TTCTTCCACAGACACCTACAA	0.294000													30	147					0	0	0.009535	0	0
ABCB8	11194	broad.mit.edu	37	7	150732736	150732736	+	Silent	SNP	G	G	C			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr7:150732736G>C	ENST00000358849.4	+	6	927	c.834G>C	c.(832-834)acG>acC	p.T278T	ABCB8_ENST00000356058.4_Silent_p.T315T|ABCB8_ENST00000297504.6_Silent_p.T295T|ABCB8_ENST00000477719.1_Silent_p.T278T|ABCB8_ENST00000477092.1_Silent_p.T278T|ABCB8_ENST00000542328.1_Silent_p.T190T|ABCB8_ENST00000498578.1_Silent_p.T278T	NM_007188.3	NP_009119.2	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	295	ABC transmembrane type-1.			T -> S (in Ref. 1; AAD15748).		ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.T278T(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CACGCCTCACGCTGCTGCTGA	0.657000													11	103					0	0	0.001855	0	0
COL24A1	255631	broad.mit.edu	37	1	86362043	86362043	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr1:86362043G>T	ENST00000370571.2	-	29	3194	c.2828C>A	c.(2827-2829)gCc>gAc	p.A943D	COL24A1_ENST00000436319.1_Missense_Mutation_p.A943D	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	943	Collagen-like 7.				cell adhesion	collagen	extracellular matrix structural constituent	p.A943D(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GATTACCTTGGCACCTTGTAT	0.313000													5	137					0.000602214	0.000677903	0.000602	1	0
RYR2	6262	broad.mit.edu	37	1	237948095	237948095	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr1:237948095G>T	ENST00000366574.2	+	90	13400	c.13083G>T	c.(13081-13083)gaG>gaT	p.E4361D	RYR2_ENST00000542537.1_Missense_Mutation_p.E4345D|RYR2_ENST00000360064.6_Missense_Mutation_p.E4367D	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4361					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.E4359D(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGCCCTCCGAGGATCTGACCG	0.537000													18	96					4.96729e-08	6.84456e-08	0.008871	1	0
MYL10	93408	broad.mit.edu	37	7	101265451	101265451	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr7:101265451C>A	ENST00000223167.4	-	5	556	c.379G>T	c.(379-381)Gag>Tag	p.E127*		NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN	myosin, light chain 10, regulatory	127						mitochondrion	calcium ion binding	p.E127*(1)		breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						ACCATGGCCTCCAGTTCCTCG	0.597000													10	67					1.5842e-08	2.25066e-08	0.001855	1	0
CASC5	57082	broad.mit.edu	37	15	40912855	40912855	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr15:40912855T>C	ENST00000527044.1	+	9	709	c.334T>C	c.(334-336)Tac>Cac	p.Y112H	CASC5_ENST00000399668.2_Silent_p.H131H|CASC5_ENST00000346991.5_Silent_p.H157H			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	2288	Interaction with BUB1 and BUB1B.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding	p.H157H(2)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		TTATAGAACATACCCGTGAAA	0.313000													7	56					0	0	0.001984	0	0
TSPAN15	23555	broad.mit.edu	37	10	71265915	71265915	+	Silent	SNP	C	C	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr10:71265915C>A	ENST00000373290.2	+	7	776	c.654C>A	c.(652-654)ggC>ggA	p.G218G	TSPAN15_ENST00000459981.1_3'UTR	NM_012339.3	NP_036471.1	O95858	TSN15_HUMAN	tetraspanin 15	218						integral to plasma membrane|membrane fraction		p.G218G(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	9						ACGTGCGGGGCTGCACCAACG	0.632000													12	126					0.000151284	0.000179107	0.001855	1	0
TCERG1	10915	broad.mit.edu	37	5	145838723	145838723	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr5:145838723G>T	ENST00000296702.5	+	4	753	c.715G>T	c.(715-717)Gcc>Tcc	p.A239S	TCERG1_ENST00000394421.2_Missense_Mutation_p.A239S	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	239	Ala/Gln-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	p.A239S(1)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			tcaggcccaggcccaggctca	0.682000													12	41					5.16669e-11	8.15584e-11	0.010729	1	0
CCIN	881	broad.mit.edu	37	9	36170205	36170205	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr9:36170205G>T	ENST00000335119.2	+	1	817	c.706G>T	c.(706-708)Gcc>Tcc	p.A236S		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	236					cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	p.A236S(1)		breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			GCTGGTGTTTGCCAGCAACAA	0.502000													10	38					4.68919e-08	6.50487e-08	0.008291	1	0
OTOGL	283310	broad.mit.edu	37	12	80771682	80771682	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr12:80771682A>G	ENST00000458043.2	+	58	6895	c.6889A>G	c.(6889-6891)Aat>Gat	p.N2297D	OTOGL_ENST00000546620.1_Missense_Mutation_p.N316D|OTOGL_ENST00000547103.1_Missense_Mutation_p.N2285D	NM_173591.3	NP_775862.3			otogelin-like									p.N2297D(1)|p.N662D(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						ATATAACATCAATATTGAAAG	0.358000													4	11					0	0	0.001168	0	0
OR4D10	390197	broad.mit.edu	37	11	59245669	59245669	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr11:59245669A>G	ENST00000530162.1	+	1	824	c.767A>G	c.(766-768)tAt>tGt	p.Y256C		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y256C(1)|p.Y254C(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCCTGCATCTATGTCTATGCC	0.562000													26	225					0	0	0.007291	0	0
MUC16	94025	broad.mit.edu	37	19	9073402	9073402	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr19:9073402G>T	ENST00000397910.4	-	3	14247	c.14044C>A	c.(14044-14046)Cag>Aag	p.Q4682K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4684	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.Q4682K(2)|p.Q315K(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GACCCTGTCTGGGTGGTGGTC	0.483000													37	191					1.49673e-21	2.82869e-21	0.006230	1	0
OR2J3	442186	broad.mit.edu	37	6	29079836	29079836	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr6:29079836C>A	ENST00000377169.1	+	1	169	c.169C>A	c.(169-171)Cat>Aat	p.H57N		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H57N(1)		endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						CCTGGACTCCCATCTGCACAC	0.458000													55	306					3.10202e-16	5.55286e-16	0.003610	1	0
XIRP2	129446	broad.mit.edu	37	2	168102744	168102744	+	Silent	SNP	C	C	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr2:168102744C>A	ENST00000409195.1	+	9	4931	c.4842C>A	c.(4840-4842)tcC>tcA	p.S1614S	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Silent_p.S1392S|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Silent_p.S1614S	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1439					actin cytoskeleton organization	cell junction	actin binding	p.S1614S(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ACCTACTTTCCAAAAGGGACT	0.338000													6	57					1.76689e-08	2.50158e-08	0.006214	1	0
FAT3	120114	broad.mit.edu	37	11	92525961	92525961	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr11:92525961G>T	ENST00000298047.6	+	8	4657	c.4640G>T	c.(4639-4641)aGa>aTa	p.R1547I	FAT3_ENST00000409404.2_Missense_Mutation_p.R1547I|FAT3_ENST00000525166.1_Missense_Mutation_p.R1397I			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1547	Cadherin 14.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.R1547I(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCTTATCGAAGAAACTTGGCC	0.418000										TCGA Ovarian(4;0.039)			9	149					1.58986e-06	2.08606e-06	0.008291	1	0
COTL1	23406	broad.mit.edu	37	16	84623755	84623755	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr16:84623755C>T	ENST00000262428.4	-	3	436	c.274G>A	c.(274-276)Gcc>Acc	p.A92T	COTL1_ENST00000564057.1_Missense_Mutation_p.A23T	NM_021149.2	NP_066972.1	Q14019	COTL1_HUMAN	coactosin-like 1 (Dictyostelium)	92	ADF-H.					cytoplasm|cytoskeleton	actin binding|enzyme binding	p.A92T(1)		endometrium(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	6						CCGGTTTTGGCGCGCTGCAGC	0.597000													4	81					0	0	0.009096	0	0
ABCF2	10061	broad.mit.edu	37	7	150915920	150915920	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr7:150915920C>A	ENST00000287844.2	-	9	1166	c.1057G>T	c.(1057-1059)Gcc>Tcc	p.A353S	ABCF2_ENST00000473874.1_5'UTR|ABCF2_ENST00000222388.2_Missense_Mutation_p.A353S	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 2	353						ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity	p.A353S(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCCTGCCGGGCCAGCTTGGCA	0.522000													25	131					2.81731e-10	4.33109e-10	0.010818	1	0
CEP85	64793	broad.mit.edu	37	1	26566285	26566285	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr1:26566285A>T	ENST00000252992.4	+	2	142	c.11A>T	c.(10-12)cAg>cTg	p.Q4L	CEP85_ENST00000451429.2_Missense_Mutation_p.Q4L	NM_022778.2	NP_073615.2	Q6P2H3	CEP85_HUMAN	centrosomal protein 85kDa	4						centrosome|nucleolus|spindle pole		p.Q4L(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						ATGGCCATGCAGGAGAAATAT	0.408000													17	81					0	0	0.006122	0	0
ERC1	23085	broad.mit.edu	37	12	1299084	1299084	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr12:1299084C>A	ENST00000397203.2	+	12	2623	c.2217C>A	c.(2215-2217)caC>caA	p.H739Q	ERC1_ENST00000543086.3_Missense_Mutation_p.H711Q|ERC1_ENST00000546231.2_Missense_Mutation_p.H739Q|ERC1_ENST00000360905.4_Missense_Mutation_p.H739Q|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000589028.1_Missense_Mutation_p.H739Q|ERC1_ENST00000355446.5_Missense_Mutation_p.H739Q			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	739					I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding	p.H739Q(1)		NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			GAATACAGCACTTGGAGAGAG	0.458000													12	62					2.61681e-11	4.17879e-11	0.002450	1	0
TRBC2	28638	broad.mit.edu	37	7	142498843	142498843	+	RNA	SNP	C	C	G			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr7:142498843C>G	ENST00000466254.1	+	0	119																											ACCCCGACCACGTGGAGCTGA	0.617000													11	116					0	0	0.002450	0	0
ULK3	25989	broad.mit.edu	37	15	75134424	75134424	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr15:75134424T>A	ENST00000440863.2	-	3	447	c.356A>T	c.(355-357)cAg>cTg	p.Q119L	ULK3_ENST00000569437.1_Missense_Mutation_p.Q119L|ULK3_ENST00000568667.1_Missense_Mutation_p.Q130L	NM_001099436.1	NP_001092906.1	Q6PHR2	ULK3_HUMAN	unc-51 like kinase 3	119	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity	p.Q119L(1)		breast(2)	2						ACCTAATTGCTGCATGAAGAC	0.577000													17	192					0	0	0.008871	0	0
IL13RA2	3598	broad.mit.edu	37	X	114250291	114250291	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chrX:114250291T>A	ENST00000371936.1	-	4	437	c.188A>T	c.(187-189)aAg>aTg	p.K63M	IL13RA2_ENST00000468224.1_5'UTR|IL13RA2_ENST00000243213.1_Missense_Mutation_p.K63M			Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2	63	Fibronectin type-III 1.					extracellular space|integral to membrane|soluble fraction	cytokine receptor activity	p.K63M(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						TGTGCATTCCTTAAAATGATC	0.408000													20	91					0	0	0.008871	0	0
TRPC5	7224	broad.mit.edu	37	X	111090471	111090471	+	Missense_Mutation	SNP	T	T	A	rs3027722		TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chrX:111090471T>A	ENST00000262839.2	-	6	2489	c.1571A>T	c.(1570-1572)tAc>tTc	p.Y524F		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	524					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	p.Y524F(1)		biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TACCAGGCAGTAGATAAAGAG	0.463000													25	179					0	0	0.002780	0	0
TIMM17B	10245	broad.mit.edu	37	X	48754088	48754088	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chrX:48754088C>A	ENST00000396779.3	-	3	228	c.80G>T	c.(79-81)gGt>gTt	p.G27V	TIMM17B_ENST00000376582.3_Missense_Mutation_p.G27V|TIMM17B_ENST00000466995.1_5'UTR	NM_001167947.1	NP_001161419.1	O60830	TI17B_HUMAN	translocase of inner mitochondrial membrane 17 homolog B (yeast)	27					protein targeting to mitochondrion	integral to membrane|microtubule cytoskeleton|mitochondrial inner membrane presequence translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity	p.G27V(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6						GACTCCGCCACCGATGACACC	0.587000													8	80					0.00307968	0.00336559	0.003080	1	0
CNGA2	1260	broad.mit.edu	37	X	150912053	150912053	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chrX:150912053G>T	ENST00000329903.4	+	6	1111	c.1078G>T	c.(1078-1080)Ggc>Tgc	p.G360C		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	360					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	p.G360C(1)		breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					CTTCCTGATTGGCGTCCTCAT	0.512000													18	159					6.94344e-10	1.05173e-09	0.006122	1	0
PDE1A	5136	broad.mit.edu	37	2	183051238	183051238	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr2:183051238C>A	ENST00000435564.1	-	12	1533	c.1333G>T	c.(1333-1335)Gag>Tag	p.E445*	PDE1A_ENST00000409365.1_Nonsense_Mutation_p.E429*|PDE1A_ENST00000536095.1_Nonsense_Mutation_p.E341*|PDE1A_ENST00000351439.5_Nonsense_Mutation_p.E429*|PDE1A_ENST00000346717.4_Nonsense_Mutation_p.E411*|PDE1A_ENST00000456212.1_Nonsense_Mutation_p.E445*|PDE1A_ENST00000410103.1_Nonsense_Mutation_p.E445*|PDE1A_ENST00000331935.6_Nonsense_Mutation_p.E445*|PDE1A_ENST00000358139.2_Nonsense_Mutation_p.E445*	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	445	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.E445*(2)		endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			GAGGCTTCCTCTATAAGAGGA	0.348000													5	58					8.12818e-05	9.7633e-05	0.001984	1	0
MAMLD1	10046	broad.mit.edu	37	X	149638184	149638184	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chrX:149638184G>C	ENST00000370401.2	+	4	649	c.339G>C	c.(337-339)ttG>ttC	p.L113F	MAMLD1_ENST00000262858.5_Missense_Mutation_p.L113F|MAMLD1_ENST00000468306.1_3'UTR|MAMLD1_ENST00000426613.2_Missense_Mutation_p.L88F|MAMLD1_ENST00000432680.2_Missense_Mutation_p.L88F			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	113					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.L113F(1)|p.L88F(1)|p.L40F(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					TCCCTCCATTGACAATAAATC	0.493000													13	176					0	0	0.006122	0	0
ZNF702P	79986	broad.mit.edu	37	19	53473734	53473734	+	RNA	SNP	G	G	C			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr19:53473734G>C	ENST00000600068.1	-	0	489				ZNF702P_ENST00000270443.4_RNA																							AAGCATCATTGACAGACTTCT	0.373000													6	47					0	0	0.003080	0	0
RGS5	8490	broad.mit.edu	37	1	163138072	163138072	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr1:163138072G>T	ENST00000313961.5	-	2	408	c.131C>A	c.(130-132)cCa>cAa	p.P44Q	RGS5_ENST00000530507.1_Missense_Mutation_p.P44Q|RGS5_ENST00000534288.1_5'UTR|RGS5_ENST00000527988.1_Intron|RGS5_ENST00000367903.3_Missense_Mutation_p.P64Q|RP11-267N12.1_ENST00000415437.1_RNA	NM_001254749.1|NM_003617.3	NP_001241678.1|NP_003608.1	O15539	RGS5_HUMAN	regulator of G-protein signaling 5	44					negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.P44K(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20			LUSC - Lung squamous cell carcinoma(543;0.187)			TGGTTTCTCTGGCTTCTCATT	0.458000													29	136					2.85442e-18	5.20363e-18	0.010818	1	0
CECR2	27443	broad.mit.edu	37	22	18020342	18020342	+	Silent	SNP	C	C	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr22:18020342C>T	ENST00000262608.8	+	13	1674	c.1674C>T	c.(1672-1674)ccC>ccT	p.P558P	CECR2_ENST00000400585.2_Silent_p.P416P|CECR2_ENST00000400573.4_Silent_p.P557P	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	599					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	p.P557P(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CGTTGCCCCCCACACGCCGAG	0.637000													5	57					0	0	0.004482	0	0
SAMD9L	219285	broad.mit.edu	37	7	92762064	92762064	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr7:92762064C>A	ENST00000318238.4	-	5	4437	c.3221G>T	c.(3220-3222)gGa>gTa	p.G1074V	SAMD9L_ENST00000437805.1_Missense_Mutation_p.G1074V|SAMD9L_ENST00000411955.1_Missense_Mutation_p.G1074V	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1074								p.G1074V(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TCGTCTACTTCCTGCACTCAA	0.413000													22	129					1.55795e-14	2.69695e-14	0.012319	1	0
SCN3A	6328	broad.mit.edu	37	2	166019136	166019136	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr2:166019136C>A	ENST00000360093.3	-	8	1388	c.897G>T	c.(895-897)atG>atT	p.M299I	SCN3A_ENST00000283254.7_Missense_Mutation_p.M299I|SCN3A_ENST00000409101.3_Missense_Mutation_p.M299I	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	299						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.M299I(2)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CATTTGAATCCATTGTGCCAT	0.388000													7	93					0.00198382	0.00217955	0.001984	1	0
PTENP1	11191	broad.mit.edu	37	9	33676082	33676082	+	RNA	SNP	G	G	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr9:33676082G>A	ENST00000532280.1	-	0	1415					NR_023917.1																						AGTGCCACTGGTCTATAATCC	0.428000													16	183					0	0	0.003163	0	0
CPXM1	56265	broad.mit.edu	37	20	2779518	2779518	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr20:2779518C>A	ENST00000380605.2	-	2	258	c.194G>T	c.(193-195)cGg>cTg	p.R65L		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	65					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding	p.R65L(1)		endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GACTCGAATCCGGACATGCTG	0.552000													76	173					1.50424e-25	2.93719e-25	0.003610	1	0
COL4A5	1287	broad.mit.edu	37	X	107821581	107821581	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chrX:107821581C>A	ENST00000328300.6	+	13	992	c.748C>A	c.(748-750)Cca>Aca	p.P250T	COL4A5_ENST00000361603.2_Missense_Mutation_p.P250T	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	250	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	p.P250T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						ACAGAAAAGACCAATTGATGT	0.423000									Alport syndrome with Diffuse Leiomyomatosis				15	119					5.01169e-05	6.10893e-05	0.004990	1	0
ITGAX	3687	broad.mit.edu	37	16	31391640	31391640	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr16:31391640C>G	ENST00000268296.4	+	27	3235	c.3114C>G	c.(3112-3114)agC>agG	p.S1038R	ITGAX_ENST00000562522.1_Missense_Mutation_p.S1038R	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	1038					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	p.S1038R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CCTCCTTCAGCGTCCAGGAGG	0.607000													4	34					0	0	0.009096	0	0
ABCC8	6833	broad.mit.edu	37	11	17419905	17419905	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr11:17419905C>G	ENST00000302539.4	-	30	3862	c.3737G>C	c.(3736-3738)aGa>aCa	p.R1246T	ABCC8_ENST00000389817.3_Missense_Mutation_p.R1245T	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1245	ABC transmembrane type-1 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	p.R1245T(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	TTCCAGCCATCTGTTGGCAGC	0.552000													7	56					0	0	0.006214	0	0
WDTC1	23038	broad.mit.edu	37	1	27627736	27627736	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr1:27627736G>T	ENST00000319394.3	+	13	1787	c.1252G>T	c.(1252-1254)Gcc>Tcc	p.A418S	WDTC1_ENST00000361771.3_Missense_Mutation_p.A417S	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	418							protein binding	p.A417S(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		CCACTATGATGCCCTGAGGGA	0.597000											OREG0013280	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	54					5.18039e-06	6.58741e-06	0.003080	1	0
RAB33A	9363	broad.mit.edu	37	X	129318306	129318306	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chrX:129318306G>T	ENST00000257017.4	+	2	720	c.306G>T	c.(304-306)atG>atT	p.M102I		NM_004794.2	NP_004785.1	Q14088	RB33A_HUMAN	RAB33A, member RAS oncogene family	102			M -> T.		protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.M102I(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(5)	11						GCAAAAGCATGGTCGAGCATT	0.478000													20	122					3.08376e-08	4.32146e-08	0.003330	1	0
LRPPRC	10128	broad.mit.edu	37	2	44204192	44204192	+	Splice_Site	SNP	C	C	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr2:44204192C>T	ENST00000260665.7	-	5	649		c.e5-1		LRPPRC_ENST00000409659.1_Splice_Site|LRPPRC_ENST00000409946.1_Splice_Site	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing						mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding	p.?(1)		breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GGTATGTCACCTGTCAATGAA	0.313000													5	39					0	0	0.001984	0	0
TTBK1	84630	broad.mit.edu	37	6	43221047	43221047	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr6:43221047G>T	ENST00000259750.4	+	4	358	c.275G>T	c.(274-276)aGg>aTg	p.R92M	TTBK1_ENST00000304139.5_Missense_Mutation_p.R41M	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	92	Protein kinase.					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.R92M(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CATGTGTGCAGGTTCATTGGC	0.527000													9	190					7.93312e-07	1.05095e-06	0.002450	1	0
CHRNE	1145	broad.mit.edu	37	17	4804399	4804399	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr17:4804399C>A	ENST00000293780.4	-	7	698	c.688G>T	c.(688-690)Gtc>Ttc	p.V230F	C17orf107_ENST00000381365.3_3'UTR|CHRNE_ENST00000575637.1_5'UTR	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN	cholinergic receptor, nicotinic, epsilon (muscle)	230					muscle contraction|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.V230F(1)		central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12						GAGTAGATGACGTCAGTCTCC	0.652000													14	112					1.5739e-10	2.45623e-10	0.004007	1	0
ABCA13	154664	broad.mit.edu	37	7	48684282	48684282	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr7:48684282G>C	ENST00000435803.1	+	61	15037	c.15013G>C	c.(15013-15015)Gtt>Ctt	p.V5005L	ABCA13_ENST00000544596.1_Missense_Mutation_p.V735L	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	5005					transport	integral to membrane	ATP binding|ATPase activity	p.V4950L(1)|p.V5005L(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CTTGTTCAAAGTTATAGAGAA	0.323000													3	65					0	0	0.004672	0	0
ABCA5	23461	broad.mit.edu	37	17	67309240	67309240	+	Silent	SNP	T	T	C	rs146635038		TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr17:67309240T>C	ENST00000392676.3	-	3	364	c.300A>G	c.(298-300)ctA>ctG	p.L100L	ABCA5_ENST00000588877.1_Silent_p.L100L|ABCA5_ENST00000392677.2_Silent_p.L100L			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	100					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	p.L100L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					TACCATCAGGTAGATGATCAG	0.313000													5	66					0	0	0.000602	0	0
PRSS38	339501	broad.mit.edu	37	1	228033666	228033666	+	Silent	SNP	G	G	C			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr1:228033666G>C	ENST00000366757.3	+	5	762	c.738G>C	c.(736-738)ggG>ggC	p.G246G		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	246	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.G246G(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GCGACTCCGGGGGCCCACTTG	0.607000													13	62					0	0	0.003163	0	0
CENPBD1	92806	broad.mit.edu	37	16	90038268	90038268	+	Silent	SNP	C	C	G			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr16:90038268C>G	ENST00000314994.3	-	1	674	c.63G>C	c.(61-63)gcG>gcC	p.A21A	CENPBD1_ENST00000567035.1_Intron|RP11-566K11.5_ENST00000565150.1_RNA	NM_145039.3	NP_659476.2	B2RD01	CENP1_HUMAN	CENPB DNA-binding domains containing 1	21	HTH psq-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	p.A21A(2)		endometrium(1)|lung(2)	3						CAAGGGTAATCGCTTTCCGTT	0.488000													9	50					0	0	0.010729	0	0
STPG2	285555	broad.mit.edu	37	4	98893504	98893504	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr4:98893504C>G	ENST00000295268.3	-	7	949	c.860G>C	c.(859-861)gGt>gCt	p.G287A		NM_174952.2	NP_777612.1			sperm-tail PG-rich repeat containing 2									p.G287A(1)									AACAGAAGAACCAAATGCACT	0.348000													7	45					0	0	0.001984	0	0
MYO18B	84700	broad.mit.edu	37	22	26165096	26165096	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr22:26165096G>C	ENST00000335473.7	+	4	1463	c.1213G>C	c.(1213-1215)Gca>Cca	p.A405P	MYO18B_ENST00000536101.1_Missense_Mutation_p.A405P|MYO18B_ENST00000407587.2_Missense_Mutation_p.A405P	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	405						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	p.A405P(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GTCCGGGAACGCAGGTGAAGC	0.607000													3	37					0	0	0.004672	0	0
P4HB	5034	broad.mit.edu	37	17	79813036	79813036	+	Silent	SNP	C	C	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr17:79813036C>A	ENST00000331483.4	-	4	828	c.606G>T	c.(604-606)ggG>ggT	p.G202G	P4HB_ENST00000439918.2_Silent_p.G158G|P4HB_ENST00000576390.1_Intron|P4HB_ENST00000472244.1_5'UTR	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta polypeptide	202					cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	p.G202G(1)		NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			AGAGGACAACCCCATCTTTGT	0.527000													49	287					2.81731e-22	5.37375e-22	0.003610	1	0
GRIN2A	2903	broad.mit.edu	37	16	9857275	9857275	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr16:9857275G>T	ENST00000396573.2	-	14	4435	c.4126C>A	c.(4126-4128)Cgc>Agc	p.R1376S	GRIN2A_ENST00000330684.3_Missense_Mutation_p.R1376S|GRIN2A_ENST00000535259.1_Missense_Mutation_p.N1104K|GRIN2A_ENST00000562109.1_Missense_Mutation_p.N1261K|GRIN2A_ENST00000404927.2_Missense_Mutation_p.N1261K|GRIN2A_ENST00000396575.2_Missense_Mutation_p.R1376S	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1376					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.R1376S(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATAACCAAGCGTTGGTCATCC	0.562000													17	87					1.00905e-13	1.7322e-13	0.008871	1	0
ZBTB21	49854	broad.mit.edu	37	21	43414063	43414063	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr21:43414063A>C	ENST00000310826.5	-	3	325	c.142T>G	c.(142-144)Ttg>Gtg	p.L48V	ZBTB21_ENST00000398511.3_Missense_Mutation_p.L48V|ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398499.1_Missense_Mutation_p.L48V|ZBTB21_ENST00000398505.3_Missense_Mutation_p.L48V	NM_001098402.1	NP_001091872.1			zinc finger and BTB domain containing 21									p.L48V(1)									CTGGCAGCCAAGACGTTTTTA	0.438000													13	97					0	0	0.002450	0	0
LSP1	4046	broad.mit.edu	37	11	1905541	1905541	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr11:1905541C>A	ENST00000406638.2	+	6	1739	c.437C>A	c.(436-438)tCc>tAc	p.S146Y	LSP1_ENST00000311604.3_Missense_Mutation_p.S208Y|LSP1_ENST00000405957.2_Missense_Mutation_p.S146Y|LSP1_ENST00000485341.1_3'UTR|LSP1_ENST00000381775.1_Missense_Mutation_p.S336Y	NM_001013254.1|NM_001013255.1	NP_001013272.1|NP_001013273.1	P33241	LSP1_HUMAN	lymphocyte-specific protein 1	208					cellular component movement|cellular defense response	actin cytoskeleton|Golgi apparatus|plasma membrane	actin binding|signal transducer activity	p.S208Y(1)|p.S146Y(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		CTAAACCGCTCCATAGAGAAG	0.557000													5	103					0.000602214	0.000677903	0.000602	1	0
WDR6	11180	broad.mit.edu	37	3	49052329	49052329	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr3:49052329C>T	ENST00000395474.3	+	6	3344	c.3064C>T	c.(3064-3066)Cgt>Tgt	p.R1022C	WDR6_ENST00000448293.1_Missense_Mutation_p.R941C|WDR6_ENST00000415265.2_Missense_Mutation_p.R440C	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN	WD repeat domain 6	992					cell cycle arrest|negative regulation of cell proliferation	cytoplasm		p.R992C(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		CTTGCCCACCCGTGAGGGCCA	0.587000													10	67					0	0	0.001368	0	0
SLC25A26	115286	broad.mit.edu	37	3	66413339	66413339	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr3:66413339G>A	ENST00000354883.6	+	8	1282	c.554G>A	c.(553-555)tGt>tAt	p.C185Y	SLC25A26_ENST00000536651.1_3'UTR|SLC25A26_ENST00000336733.5_Missense_Mutation_p.C97Y|SLC25A26_ENST00000484768.1_Intron			Q70HW3	SAMC_HUMAN	solute carrier family 25 (S-adenosylmethionine carrier), member 26	185						integral to membrane|mitochondrial inner membrane|nucleus	S-adenosylmethionine transmembrane transporter activity	p.C185Y(1)		endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)|stomach(2)|urinary_tract(1)	8		Lung NSC(201;0.00774)		BRCA - Breast invasive adenocarcinoma(55;0.00046)|KIRC - Kidney renal clear cell carcinoma(15;0.0515)|Kidney(15;0.0648)		TCAGCAGTCTGTGGAGCTTTT	0.383000													5	17					0	0	0.000602	0	0
OR8D1	283159	broad.mit.edu	37	11	124180365	124180365	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr11:124180365G>T	ENST00000357821.2	-	1	368	c.298C>A	c.(298-300)Cag>Aag	p.Q100K		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q100K(1)		kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		AAAAAGAGCTGGACCATGCAC	0.453000													3	27					2.56e-06	3.33772e-06	0.009096	1	0
DCAF12L2	340578	broad.mit.edu	37	X	125298776	125298776	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chrX:125298776G>A	ENST00000538699.1	-	2	1212	c.1132C>T	c.(1132-1134)Cgc>Tgc	p.R378C	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.R378C	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	378								p.R378C(2)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						TTCTGGGCGCGGATGTCATAG	0.642000													18	191					0	0	0.008871	0	0
VWC2L	402117	broad.mit.edu	37	2	215279062	215279062	+	Silent	SNP	C	C	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr2:215279062C>A	ENST00000312504.5	+	2	947	c.145C>A	c.(145-147)Cga>Aga	p.R49R	VWC2L_ENST00000427124.1_Silent_p.R49R|AC107218.3_ENST00000437883.1_RNA|AC107218.3_ENST00000412896.1_RNA	NM_001080500.2	NP_001073969.1	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain containing protein 2-like	49						extracellular region		p.R49R(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						TGATGACTATCGAGGGAAAGG	0.478000													6	29					1.06961e-07	1.44961e-07	0.003080	1	0
CYBB	1536	broad.mit.edu	37	X	37658247	37658247	+	Silent	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chrX:37658247G>T	ENST00000378588.4	+	7	781	c.714G>T	c.(712-714)gtG>gtT	p.V238V	CYBB_ENST00000536160.1_5'UTR|CYBB_ENST00000545017.1_Silent_p.V206V|TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000492288.1_3'UTR	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	238	Ferric oxidoreductase.				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity	p.V238V(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						GTTTGGCTGTGCATAATATAA	0.368000													5	39					1.23904e-05	1.54225e-05	0.000602	1	0
SNTB1	6641	broad.mit.edu	37	8	121706136	121706136	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr8:121706136C>A	ENST00000395601.3	-	3	998	c.584G>T	c.(583-585)cGa>cTa	p.R195L	SNTB1_ENST00000519177.1_5'UTR|SNTB1_ENST00000517992.1_Missense_Mutation_p.R195L	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	195	PDZ.|PH 1.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding	p.R195L(1)|p.R195P(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			CGTGGCTTCTCGCATGTACTT	0.483000													11	76					0.00185496	0.00206552	0.001855	1	0
MAMLD1	10046	broad.mit.edu	37	X	149638601	149638601	+	Silent	SNP	G	G	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chrX:149638601G>A	ENST00000370401.2	+	4	1066	c.756G>A	c.(754-756)caG>caA	p.Q252Q	MAMLD1_ENST00000262858.5_Silent_p.Q252Q|MAMLD1_ENST00000426613.2_Silent_p.Q227Q|MAMLD1_ENST00000432680.2_Silent_p.Q227Q			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	252					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.Q227Q(1)|p.Q179Q(1)|p.Q252Q(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					TGTCACTTCAGATCCCATCCT	0.517000													19	312					0	0	0.003954	0	0
USP31	57478	broad.mit.edu	37	16	23080502	23080502	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr16:23080502C>T	ENST00000219689.7	-	16	2923	c.2924G>A	c.(2923-2925)cGc>cAc	p.R975H	USP31_ENST00000567975.1_Missense_Mutation_p.R268H	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	975	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.R975H(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		CGGGGGCAGGCGGTCCCCTTG	0.517000													20	142					0	0	0.008871	0	0
MAP1A	4130	broad.mit.edu	37	15	43819588	43819588	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr15:43819588C>A	ENST00000382031.1	+	5	6662	c.6631C>A	c.(6631-6633)Cag>Aag	p.Q2211K	MAP1A_ENST00000399453.1_Missense_Mutation_p.Q1973K|MAP1A_ENST00000300231.5_Missense_Mutation_p.Q1973K			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1973						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	p.Q1973K(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CATCTATGAGCAGATGATGCT	0.582000													5	111					0.000157383	0.00018421	0.003080	1	0
HHIPL2	79802	broad.mit.edu	37	1	222717100	222717100	+	Silent	SNP	C	C	G			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr1:222717100C>G	ENST00000343410.6	-	2	811	c.753G>C	c.(751-753)ctG>ctC	p.L251L		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	251					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	p.L251L(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		AGGGTTGCTCCAGGCGACTCC	0.592000													30	158					0	0	0.007291	0	0
SKIDA1	387640	broad.mit.edu	37	10	21804176	21804176	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr10:21804176C>A	ENST00000449193.2	-	4	4828	c.2576G>T	c.(2575-2577)gGg>gTg	p.G859V	SKIDA1_ENST00000444772.3_Missense_Mutation_p.G780V	NM_207371.3	NP_997254.3			SKI/DACH domain containing 1									p.G859V(2)									CCCATCTCTCCCAATAATGAG	0.458000													15	43					0.000422831	0.000485255	0.004007	1	0
DSG3	1830	broad.mit.edu	37	18	29054280	29054280	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr18:29054280G>T	ENST00000257189.4	+	15	2381	c.2298G>T	c.(2296-2298)atG>atT	p.M766I		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	766					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	p.M766I(1)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CTGGAACCATGAGAACAAGGC	0.507000													20	112					4.96729e-08	6.84456e-08	0.008871	1	0
SRD5A2	6716	broad.mit.edu	37	2	31806000	31806000	+	RNA	SNP	C	C	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr2:31806000C>A	ENST00000405650.1	-	0	136							P31213	S5A2_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)						androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity					Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)	TGGCCGCTGCCCTCCCAGAAG	0.711000													4	18					3.59834e-05	4.41225e-05	0.001168	1	0
ZNF492	57615	broad.mit.edu	37	19	22847799	22847799	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr19:22847799A>G	ENST00000456783.2	+	4	1572	c.1328A>G	c.(1327-1329)cAt>cGt	p.H443R		NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	443					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H443R(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				AAGGTAATTCATACTGGAGAG	0.378000													7	38					0	0	0.001984	0	0
TRPM1	4308	broad.mit.edu	37	15	31360169	31360169	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr15:31360169G>T	ENST00000542188.1	-	4	770	c.457C>A	c.(457-459)Ccc>Acc	p.P153T	TRPM1_ENST00000256552.6_Missense_Mutation_p.P136T|TRPM1_ENST00000397795.2_Missense_Mutation_p.P114T	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	114					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	p.P114T(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TTCAGCTTGGGCTGCATCTCA	0.547000													22	214					5.26018e-13	8.77406e-13	0.012319	1	0
FAM135B	51059	broad.mit.edu	37	8	139180236	139180236	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr8:139180236C>A	ENST00000395297.1	-	12	1330	c.1160G>T	c.(1159-1161)aGc>aTc	p.S387I		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	387								p.S387I(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CGGGGGCATGCTAGTGAGGTA	0.607000										HNSCC(54;0.14)			32	152					1.62565e-12	2.66839e-12	0.012213	1	0
TP53	7157	broad.mit.edu	37	17	7577535	7577535	+	Missense_Mutation	SNP	C	C	A	rs67185453		TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr17:7577535C>A	ENST00000420246.2	-	7	878	c.746G>T	c.(745-747)aGg>aTg	p.R249M	TP53_ENST00000455263.2_Missense_Mutation_p.R249M|TP53_ENST00000269305.4_Missense_Mutation_p.R249M|TP53_ENST00000445888.2_Missense_Mutation_p.R249M|TP53_ENST00000359597.4_Missense_Mutation_p.R249M|TP53_ENST00000413465.2_Missense_Mutation_p.R249M	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	249	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> I (in a sporadic cancer; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> M (in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in sporadic cancers; somatic mutation; dbSNP:rs28934571).|R -> T (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R249M(38)|p.R249K(20)|p.R249T(16)|p.0?(8)|p.?(5)|p.R249fs*96(4)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.R249_P250delRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*14(1)|p.R249_T256delRPILTIIT(1)|p.R249_I251delRPI(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GAGGATGGGCCTCCGGTTCAT	0.567000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			17	55					1.40151e-16	2.53255e-16	0.010504	1	0
TDRD6	221400	broad.mit.edu	37	6	46658183	46658183	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr6:46658183C>T	ENST00000544460.1	+	1	2572	c.2318C>T	c.(2317-2319)aCa>aTa	p.T773I	TDRD6_ENST00000316081.6_Missense_Mutation_p.T773I	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	773					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	p.T773I(1)		NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GTTGGAAGTACAGTAGAAGTC	0.398000													67	64					0	0	0.003610	0	0
LRP1B	53353	broad.mit.edu	37	2	140992421	140992421	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr2:140992421G>T	ENST00000389484.3	-	90	14564	c.13593C>A	c.(13591-13593)ttC>ttA	p.F4531L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4531					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.F4531L(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		gtggaagcttgaaagcactgg	0.408000										TSP Lung(27;0.18)			16	44					8.34094e-07	1.10143e-06	0.008871	1	0
SLC39A5	283375	broad.mit.edu	37	12	56629470	56629470	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr12:56629470C>T	ENST00000266980.4	+	6	1224	c.931C>T	c.(931-933)Cga>Tga	p.R311*	SLC39A5_ENST00000454355.2_Nonsense_Mutation_p.R311*	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	311					zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity	p.R310*(1)		NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTTGCGGCACCGAGGGCTCAG	0.632000													28	372					0	0	0.006320	0	0
OR51L1	119682	broad.mit.edu	37	11	5020470	5020470	+	Silent	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr11:5020470G>T	ENST00000321543.1	+	1	258	c.258G>T	c.(256-258)gtG>gtT	p.V86V		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V86V(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCTTGCTGTGTTATGGTTGG	0.483000													8	175					0.000442599	0.000502344	0.006214	1	0
AKAP9	10142	broad.mit.edu	37	7	91609624	91609624	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr7:91609624A>T	ENST00000359028.2	+	4	589	c.364A>T	c.(364-366)Aca>Tca	p.T122S	AKAP9_ENST00000356239.3_Missense_Mutation_p.T110S|AKAP9_ENST00000394564.1_Missense_Mutation_p.T110S|AKAP9_ENST00000358100.2_Missense_Mutation_p.T122S			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	122					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	p.T110S(1)|p.T122S(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AATTTCAACCACAGCAGATGA	0.254000			T	BRAF	papillary thyroid								4	55					0	0	0.000602	0	0
NTRK2	4915	broad.mit.edu	37	9	87636230	87636230	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr9:87636230T>A	ENST00000376214.1	+	21	3333	c.2395T>A	c.(2395-2397)Tat>Aat	p.Y799N	NTRK2_ENST00000376213.1_Missense_Mutation_p.Y783N|NTRK2_ENST00000323115.4_Missense_Mutation_p.Y783N|NTRK2_ENST00000277120.3_Missense_Mutation_p.Y799N	NM_006180.3	NP_006171.2	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	783	Protein kinase.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity	p.Y799N(2)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						CCAGGAGGTGTATGAGCTGAT	0.572000										TSP Lung(25;0.17)			8	63					0	0	0.006214	0	0
LRRTM1	347730	broad.mit.edu	37	2	80530299	80530299	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr2:80530299G>T	ENST00000295057.3	-	2	1302	c.646C>A	c.(646-648)Ctc>Atc	p.L216I	CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000540488.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.L216I|CTNNA2_ENST00000466387.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	216						axon|endoplasmic reticulum membrane|growth cone|integral to membrane		p.L216I(2)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						TTGTGCTCGAGGTGCAGCTCG	0.582000										HNSCC(69;0.2)			31	164					4.31634e-10	6.56211e-10	0.012213	1	0
FLT3	2322	broad.mit.edu	37	13	28589815	28589815	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr13:28589815C>A	ENST00000380982.4	-	21	2655	c.2574G>T	c.(2572-2574)atG>atT	p.M858I	FLT3_ENST00000241453.7_Missense_Mutation_p.M855I|FLT3_ENST00000537084.1_Missense_Mutation_p.M814I			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	855	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	p.M855I(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	TTTCGGGGGCCATCCATTTTA	0.428000			"""Mis, O"""		"""AML, ALL"""								16	85					4.35082e-09	6.42486e-09	0.010504	1	0
HDGFL1	154150	broad.mit.edu	37	6	22569972	22569972	+	Silent	SNP	G	G	C			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr6:22569972G>C	ENST00000510882.2	+	1	178	c.168G>C	c.(166-168)ctG>ctC	p.L56L	HDGFL1_ENST00000230012.3_Silent_p.L56L			Q5TGJ6	HDGL1_HUMAN	hepatoma derived growth factor-like 1	56	PWWP.							p.L56L(1)		kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					CCAAACGCCTGTTCCCGTACA	0.617000													8	58					0	0	0.006214	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993253	140993253	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chrX:140993253T>A	ENST00000285879.4	+	4	349	c.63T>A	c.(61-63)agT>agA	p.S21R	MAGEC1_ENST00000406005.2_5'UTR	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	21							protein binding	p.S21R(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCTGAGAGTCCTCAGAGTT	0.562000										HNSCC(15;0.026)			20	148					0	0	0.010504	0	0
TUB	7275	broad.mit.edu	37	11	8118969	8118969	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr11:8118969G>T	ENST00000305253.4	+	8	1288	c.1047G>T	c.(1045-1047)aaG>aaT	p.K349N	TUB_ENST00000299506.2_Missense_Mutation_p.K294N|TUB_ENST00000534099.1_Missense_Mutation_p.K300N	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN	tubby bipartite transcription factor	294					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane		p.K349N(1)		breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		AGGATGGGAAGAAGGTAAGGT	0.512000													13	106					4.93089e-13	8.29195e-13	0.002450	1	0
PRDM9	56979	broad.mit.edu	37	5	23527621	23527621	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr5:23527621G>T	ENST00000296682.3	+	11	2606	c.2424G>T	c.(2422-2424)gaG>gaT	p.E808D		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	808					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.E808D(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TCTGCAGGGAGTGTGGGCGGG	0.577000										HNSCC(3;0.000094)			11	261					1.08611e-07	1.46714e-07	0.010729	1	0
FOCAD	54914	broad.mit.edu	37	9	20717833	20717833	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr9:20717833G>T	ENST00000380249.1	+	5	462	c.98G>T	c.(97-99)gGt>gTt	p.G33V	FOCAD_ENST00000338382.6_Missense_Mutation_p.G33V	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN	focadhesin	33						integral to membrane	binding	p.G33V(1)									aaggaaaatggtttttcAGAA	0.333000													8	39					0.00621372	0.00668421	0.006214	1	0
MXRA5	25878	broad.mit.edu	37	X	3235287	3235287	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chrX:3235287G>T	ENST00000217939.6	-	6	6589	c.6435C>A	c.(6433-6435)aaC>aaA	p.N2145K		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2145						extracellular region		p.N2145K(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGATGCGCGCGTTGGCTGCTG	0.711000													7	31					1.12685e-05	1.41543e-05	0.004482	1	0
SPATA32	124783	broad.mit.edu	37	17	43332762	43332762	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr17:43332762G>A	ENST00000543122.1	-	6	1505	c.724C>T	c.(724-726)Cac>Tac	p.H242Y	MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA|SPATA32_ENST00000331780.4_Missense_Mutation_p.H263Y|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA					spermatogenesis associated 32									p.H263Y(1)									TTCATCATGTGTTCCAAACTG	0.582000													6	97					0	0	0.001168	0	0
THOC2	57187	broad.mit.edu	37	X	122765624	122765624	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chrX:122765624G>T	ENST00000245838.8	-	22	2427	c.2396C>A	c.(2395-2397)tCa>tAa	p.S799*	THOC2_ENST00000491737.1_Nonsense_Mutation_p.S684*|THOC2_ENST00000355725.4_Nonsense_Mutation_p.S799*	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	799					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	p.S720*(1)|p.S799*(1)		breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TACATCAATTGAAGGCACTCG	0.378000													28	311					3.1745e-13	5.38227e-13	0.008361	1	0
CYP27A1	1593	broad.mit.edu	37	2	219674425	219674425	+	Silent	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr2:219674425G>T	ENST00000258415.4	+	2	808	c.381G>T	c.(379-381)cgG>cgT	p.R127R		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	127					bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding	p.R127R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)	ACCCAGTACGGAACGACATGG	0.607000													13	107					4.93089e-13	8.29195e-13	0.002450	1	0
AFF4	27125	broad.mit.edu	37	5	132232314	132232314	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr5:132232314C>T	ENST00000265343.5	-	11	2387	c.2008G>A	c.(2008-2010)Gag>Aag	p.E670K	AFF4_ENST00000378595.3_Missense_Mutation_p.E670K	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	670					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity	p.E670K(1)	SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTATTGCTCTCGGGGTACTTA	0.443000													12	105					0	0	0.001855	0	0
HERC6	55008	broad.mit.edu	37	4	89363544	89363544	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr4:89363544G>A	ENST00000380265.5	+	22	3076	c.2893G>A	c.(2893-2895)Gag>Aag	p.E965K	HERC6_ENST00000264346.7_Missense_Mutation_p.E1001K	NM_001165136.1	NP_001158608.1	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	1001	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity	p.E1001K(1)|p.M1000I(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		GGAAAGAATGGAGGAAGCACT	0.428000													4	27					0	0	0.000602	0	0
P2RX7	5027	broad.mit.edu	37	12	121600296	121600296	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr12:121600296C>G	ENST00000546057.1	+	5	649	c.506C>G	c.(505-507)cCc>cGc	p.P169R	P2RX7_ENST00000541446.1_5'UTR|P2RX7_ENST00000535250.1_Missense_Mutation_p.P79R|P2RX7_ENST00000377162.2_Missense_Mutation_p.P169R|P2RX7_ENST00000328963.5_Intron|P2RX7_ENST00000443520.3_3'UTR	NM_002562.5	NP_002553.3	A8K2Z0	A8K2Z0_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 7	169						integral to membrane	ATP binding|ion channel activity|receptor activity	p.P169R(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GCCTGGTGCCCCATCGAGGCA	0.592000													4	60					0	0	0.000602	0	0
ZSCAN31	64288	broad.mit.edu	37	6	28294239	28294239	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr6:28294239C>A	ENST00000414429.1	-	8	1828	c.925G>T	c.(925-927)Ggc>Tgc	p.G309C	ZSCAN31_ENST00000481934.1_5'UTR|ZSCAN31_ENST00000439158.1_Missense_Mutation_p.G309C|ZSCAN31_ENST00000396838.2_Missense_Mutation_p.G309C|ZSCAN31_ENST00000344279.6_Missense_Mutation_p.G309C|ZSCAN31_ENST00000446474.1_Missense_Mutation_p.G150C					zinc finger and SCAN domain containing 31									p.G309C(1)									CGAGTGAGGCCATTGCTGGCA	0.512000													42	233					1.15183e-24	2.23847e-24	0.009718	1	0
FAT4	79633	broad.mit.edu	37	4	126411519	126411519	+	Silent	SNP	C	C	A	rs138057366	byFrequency	TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr4:126411519C>A	ENST00000394329.3	+	17	13555	c.13542C>A	c.(13540-13542)acC>acA	p.T4514T	FAT4_ENST00000335110.5_Silent_p.T2755T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4514					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T4457T(1)|p.T4514T(1)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GCTGCGCAACCGTCTTGGCCC	0.567000													20	99					2.37509e-13	4.04354e-13	0.010504	1	0
UTP15	84135	broad.mit.edu	37	5	72863231	72863231	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr5:72863231A>T	ENST00000296792.4	+	2	317	c.62A>T	c.(61-63)cAa>cTa	p.Q21L	UTP15_ENST00000508491.1_Missense_Mutation_p.Q21L|UTP15_ENST00000543251.1_Intron	NM_032175.2	NP_115551.2	Q8TED0	UTP15_HUMAN	UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae)	21					rRNA processing	cytoplasm|nucleolus		p.Q21L(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	15		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)		AAAATCACCCAAGATACACTG	0.378000													20	77					0	0	0.008871	0	0
ATP2B2	491	broad.mit.edu	37	3	10381973	10381973	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr3:10381973A>T	ENST00000397077.1	-	20	3630	c.3055T>A	c.(3055-3057)Tgg>Agg	p.W1019R	ATP2B2_ENST00000352432.4_Missense_Mutation_p.W1064R|ATP2B2_ENST00000383800.4_Missense_Mutation_p.W1019R|ATP2B2_ENST00000360273.2_Missense_Mutation_p.W1064R|ATP2B2_ENST00000343816.4_Missense_Mutation_p.W1050R			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	1064					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	p.W1064R(1)|p.W1019R(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CACCACATCCACTGGTCCAGC	0.557000													19	78					0	0	0.002299	0	0
ZCCHC2	54877	broad.mit.edu	37	18	60243765	60243765	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr18:60243765G>C	ENST00000269499.5	+	14	3908	c.3490G>C	c.(3490-3492)Gca>Cca	p.A1164P	ZCCHC2_ENST00000586834.1_Missense_Mutation_p.A843P	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	1164					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding	p.A1164P(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						ACTGAGATACGCACCTCCCCT	0.473000													3	30					0	0	0.009096	0	0
PHF6	84295	broad.mit.edu	37	X	133527957	133527957	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chrX:133527957C>A	ENST00000332070.3	+	5	595	c.393C>A	c.(391-393)caC>caA	p.H131Q	PHF6_ENST00000370799.1_Missense_Mutation_p.H131Q|PHF6_ENST00000394292.1_Missense_Mutation_p.H131Q|PHF6_ENST00000370800.4_Missense_Mutation_p.H131Q|PHF6_ENST00000416404.2_Missense_Mutation_p.H97Q|PHF6_ENST00000370803.3_Missense_Mutation_p.H131Q	NM_032458.2	NP_115834.1	Q8IWS0	PHF6_HUMAN	PHD finger protein 6	131					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	zinc ion binding	p.H131Q(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1)	103	Acute lymphoblastic leukemia(192;0.000127)					GCCGAAAACACAAGAAAACTG	0.318000			"""F, N, Splice, Mis"""		ETP ALL								22	103					2.79863e-10	4.31849e-10	0.004656	1	0
SSTR4	6754	broad.mit.edu	37	20	23016906	23016906	+	Silent	SNP	G	G	T	rs72547257		TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr20:23016906G>T	ENST00000255008.3	+	1	850	c.786G>T	c.(784-786)ctG>ctT	p.L262L	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	262					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	p.L262L(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GGCTGGTGCTGATGGTCGTGG	0.612000													44	97					1.56793e-16	2.8209e-16	0.003610	1	0
CD1C	911	broad.mit.edu	37	1	158261156	158261156	+	Silent	SNP	G	G	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr1:158261156G>A	ENST00000368170.3	+	2	573	c.294G>A	c.(292-294)gaG>gaA	p.E98E		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	98					antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	p.E98E(1)		NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					TAACTCGGGAGATTCAAGACC	0.368000													33	121					0	0	0.004289	0	0
C4orf21	55345	broad.mit.edu	37	4	113540185	113540185	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr4:113540185A>T	ENST00000505019.1	-	6	1138	c.1013T>A	c.(1012-1014)aTa>aAa	p.I338K	C4orf21_ENST00000445203.2_Missense_Mutation_p.I307K|C4orf21_ENST00000309071.5_Missense_Mutation_p.I338K	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	338								p.I338K(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		AGAAGAATGTATAGGTGAACT	0.358000													12	121					0	0	0.001368	0	0
MAMLD1	10046	broad.mit.edu	37	X	149638634	149638634	+	Silent	SNP	G	G	A	rs150886306		TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chrX:149638634G>A	ENST00000370401.2	+	4	1099	c.789G>A	c.(787-789)tcG>tcA	p.S263S	MAMLD1_ENST00000262858.5_Silent_p.S263S|MAMLD1_ENST00000426613.2_Silent_p.S238S|MAMLD1_ENST00000432680.2_Silent_p.S238S			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	263					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.S263S(1)|p.S190S(1)|p.S238S(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					TCAGCTATTCGATTCCTTCCA	0.542000													19	257					0	0	0.004656	0	0
GNG11	2791	broad.mit.edu	37	7	93555509	93555509	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr7:93555509G>T	ENST00000248564.4	+	2	642	c.203G>T	c.(202-204)gGc>gTc	p.G68V		NM_004126.3	NP_004117.1	P61952	GBG11_HUMAN	guanine nucleotide binding protein (G protein), gamma 11	68					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway	heterotrimeric G-protein complex	GTPase activity|signal transducer activity	p.G68V(1)		breast(1)|central_nervous_system(1)|kidney(1)|lung(2)|skin(1)	6	all_cancers(62;2.39e-10)|all_epithelial(64;1.54e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			AAAGAAAAAGGCAGCTGTGTT	0.348000													9	101					2.17888e-05	2.69579e-05	0.006214	1	0
CA10	56934	broad.mit.edu	37	17	49710858	49710858	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr17:49710858C>A	ENST00000451037.2	-	8	1883	c.943G>T	c.(943-945)Gcc>Tcc	p.A315S	CA10_ENST00000340813.6_Missense_Mutation_p.A321S|CA10_ENST00000442502.2_Missense_Mutation_p.A315S|CA10_ENST00000570565.1_Missense_Mutation_p.A240S|CA10_ENST00000285273.4_Missense_Mutation_p.A315S	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	315					brain development			p.A315S(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			AGCTTCTGGGCTCGGTTGTTT	0.512000													6	100					5.4927e-09	7.99644e-09	0.004482	1	0
BHLHB9	80823	broad.mit.edu	37	X	102004639	102004639	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chrX:102004639C>T	ENST00000372735.1	+	4	1301	c.716C>T	c.(715-717)tCt>tTt	p.S239F	BHLHB9_ENST00000361229.4_Missense_Mutation_p.S239F|BHLHB9_ENST00000457056.1_Missense_Mutation_p.S239F|BHLHB9_ENST00000447531.1_Missense_Mutation_p.S239F|BHLHB9_ENST00000448867.1_Missense_Mutation_p.S239F			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	239						cytoplasm|nucleus	binding	p.S239F(1)		cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CAGGCACCATCTGAGGCAAGC	0.507000													24	193					0	0	0.002299	0	0
NXPH3	11248	broad.mit.edu	37	17	47656499	47656499	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr17:47656499G>T	ENST00000328741.5	+	2	958	c.596G>T	c.(595-597)tGc>tTc	p.C199F	NXPH3_ENST00000513748.1_Missense_Mutation_p.C199F	NM_007225.2	NP_009156.2	O95157	NXPH3_HUMAN	neurexophilin 3	199	V (Cys-rich).				neuropeptide signaling pathway	extracellular region		p.C199F(1)		endometrium(2)|large_intestine(3)|lung(4)|pancreas(1)|skin(2)	12	all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17)					GCCAAGATCTGCTCCCGAGAC	0.602000													24	132					2.79863e-10	4.31849e-10	0.004656	1	0
AFTPH	54812	broad.mit.edu	37	2	64779295	64779295	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr2:64779295G>T	ENST00000422803.1	+	2	1001	c.687G>T	c.(685-687)gaG>gaT	p.E229D	AFTPH_ENST00000238855.7_Missense_Mutation_p.E229D|AFTPH_ENST00000238856.4_Missense_Mutation_p.E229D|AFTPH_ENST00000409933.1_Missense_Mutation_p.E229D			Q6ULP2	AFTIN_HUMAN	aftiphilin	229					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding	p.E229D(2)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						GTCCTGCTGAGGAATTTGCAG	0.393000													20	68					1.22574e-08	1.75349e-08	0.002299	1	0
GRID1	2894	broad.mit.edu	37	10	87373323	87373323	+	Silent	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr10:87373323G>T	ENST00000327946.7	-	15	2527	c.2442C>A	c.(2440-2442)acC>acA	p.T814T	GRID1_ENST00000536331.1_Silent_p.T385T	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	814						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.T814T(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	TGGCATGGCTGGTGAGGTCAC	0.632000										Multiple Myeloma(13;0.14)			16	58					6.33239e-15	1.10548e-14	0.010504	1	0
MAGT1	84061	broad.mit.edu	37	X	77086363	77086363	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chrX:77086363C>A	ENST00000358075.6	-	9	1113	c.1027G>T	c.(1027-1029)Gta>Tta	p.V343L		NM_032121.5	NP_115497.4	Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	311					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex		p.V311L(1)		cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						AAGAATAATACAACAAGTCCA	0.323000													11	50					0.000151284	0.000179107	0.001855	1	0
SLC17A1	6568	broad.mit.edu	37	6	25799037	25799037	+	Silent	SNP	T	T	C			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr6:25799037T>C	ENST00000244527.4	-	12	1495	c.1380A>G	c.(1378-1380)aaA>aaG	p.K460K	SLC17A1_ENST00000476801.1_Silent_p.K460K|SLC17A1_ENST00000468082.1_Silent_p.K406K|SLC17A1_ENST00000427328.1_Silent_p.K406K	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	460					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity	p.K460K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						GTTGTTTTTCTTTAGCCCAGT	0.428000													15	109					0	0	0.004007	0	0
LIN54	132660	broad.mit.edu	37	4	83905676	83905676	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr4:83905676C>A	ENST00000340417.3	-	2	699	c.322G>T	c.(322-324)Gtg>Ttg	p.V108L	LIN54_ENST00000395282.2_Missense_Mutation_p.V108L|LIN54_ENST00000395283.2_Missense_Mutation_p.V108L|LIN54_ENST00000506560.1_Missense_Mutation_p.V108L|LIN54_ENST00000505397.1_Missense_Mutation_p.V108L|LIN54_ENST00000446851.2_Intron|LIN54_ENST00000442461.2_Intron|LIN54_ENST00000510557.1_Intron	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 homolog (C. elegans)	108					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.V108L(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				GATATAGTCACAGGAGTCTGA	0.383000													14	182					3.27435e-08	4.57299e-08	0.002450	1	0
FOXI1	2299	broad.mit.edu	37	5	169533452	169533452	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr5:169533452A>T	ENST00000449804.2	+	1	536	c.491A>T	c.(490-492)aAg>aTg	p.K164M	FOXI1_ENST00000306268.6_Missense_Mutation_p.K164M	NM_012188.4|NM_144769.2	NP_036320.2|NP_658982.1	Q12951	FOXI1_HUMAN	forkhead box I1	164					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	p.K164M(1)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AACAAGAGCAAGGCCGGCTGG	0.607000									Pendred syndrome				6	24					0	0	0.003080	0	0
GNAO1	2775	broad.mit.edu	37	16	56377812	56377812	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr16:56377812G>T	ENST00000262494.7	+	8	1275	c.1015G>T	c.(1015-1017)Gtg>Ttg	p.V339L	GNAO1_ENST00000262493.6_Intron	NM_138736.2	NP_620073.2	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O	339					dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity	p.V339L(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				CTTTGATGCTGTGACGGACGT	0.617000													11	74					6.40141e-05	7.73426e-05	0.010729	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33662100	33662100	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr5:33662100A>T	ENST00000504830.1	-	6	1296	c.961T>A	c.(961-963)Ttc>Atc	p.F321I	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.F321I|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	321	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.F321I(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CACTTGCAGAAGCTAGACAGT	0.483000										HNSCC(64;0.19)			53	76					0	0	0.003610	0	0
MYH8	4626	broad.mit.edu	37	17	10298575	10298575	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr17:10298575C>G	ENST00000403437.2	-	34	4931	c.4837G>C	c.(4837-4839)Gat>Cat	p.D1613H	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1613					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	p.D1613H(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CTCAGAGCATCATTTCTGCTT	0.448000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				17	143					0	0	0.004990	0	0
DRD3	1814	broad.mit.edu	37	3	113890615	113890615	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr3:113890615G>T	ENST00000383673.2	-	2	655	c.225C>A	c.(223-225)gaC>gaA	p.D75E	DRD3_ENST00000460779.1_Missense_Mutation_p.D75E|DRD3_ENST00000295881.7_Missense_Mutation_p.D75E|DRD3_ENST00000467632.1_Missense_Mutation_p.D75E	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN	dopamine receptor D3	75					activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding	p.D75E(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	CCACCAGCAAGTCTGCCACAG	0.557000													11	105					2.61681e-11	4.17879e-11	0.002450	1	0
CEP192	55125	broad.mit.edu	37	18	13095519	13095519	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr18:13095519G>T	ENST00000506447.1	+	35	6352	c.6272G>T	c.(6271-6273)gGg>gTg	p.G2091V	CEP192_ENST00000430049.2_Missense_Mutation_p.G1616V|CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000325971.8_Missense_Mutation_p.G1495V	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1686								p.G2091V(1)|p.G1495V(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GGAGCTTCTGGGAAACATGGT	0.438000													93	224					4.98208e-43	9.91602e-43	0.003610	1	0
TGM6	343641	broad.mit.edu	37	20	2411621	2411621	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr20:2411621T>A	ENST00000202625.2	+	12	1976	c.1915T>A	c.(1915-1917)Tgt>Agt	p.C639S	TGM6_ENST00000381423.1_Intron	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	639					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.C639S(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	AGTGAAGGACTGTGCGCTGAT	0.597000													76	165					0	0	0.003610	0	0
NUTM1	256646	broad.mit.edu	37	15	34640216	34640216	+	Silent	SNP	C	C	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr15:34640216C>T	ENST00000537011.1	+	3	529	c.147C>T	c.(145-147)gcC>gcT	p.A49A	NUTM1_ENST00000438749.3_Silent_p.A39A|NUTM1_ENST00000333756.4_Silent_p.A21A					NUT midline carcinoma, family member 1									p.A21A(1)									CTAGTGCCGCCCCGTCTCCAT	0.532000													11	90					0	0	0.001368	0	0
ABCA5	23461	broad.mit.edu	37	17	67243691	67243691	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr17:67243691C>T	ENST00000392676.3	-	39	4980	c.4916G>A	c.(4915-4917)aGa>aAa	p.R1639K	ABCA5_ENST00000588877.1_Missense_Mutation_p.R1639K|ABCA5_ENST00000392677.2_Missense_Mutation_p.R1640K			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	1639					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	p.R1639K(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					AAATACTACTCTATCTTCTTG	0.333000													8	108					0	0	0.004482	0	0
CCDC80	151887	broad.mit.edu	37	3	112357838	112357838	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr3:112357838G>T	ENST00000206423.3	-	2	1868	c.915C>A	c.(913-915)agC>agA	p.S305R	CCDC80_ENST00000439685.2_Missense_Mutation_p.S305R	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	305								p.S305R(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						CGCTGCCCAGGCTTGGCCTTC	0.597000													27	105					7.07758e-08	9.71988e-08	0.004656	1	0
DSCAML1	57453	broad.mit.edu	37	11	117395626	117395626	+	Silent	SNP	T	T	C			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr11:117395626T>C	ENST00000321322.6	-	5	1012	c.1011A>G	c.(1009-1011)acA>acG	p.T337T	DSCAML1_ENST00000527706.1_Silent_p.T67T	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	277	Ig-like C2-type 4.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	p.T337T(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TGGTCAGCCCTGTGATGCGCT	0.657000													3	22					0	0	0.000602	0	0
TDGF1	6997	broad.mit.edu	37	3	46621261	46621261	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr3:46621261G>T	ENST00000296145.5	+	4	989	c.256G>T	c.(256-258)Ggg>Tgg	p.G86W	LRRC2_ENST00000296144.3_Intron|TDGF1_ENST00000542931.1_Missense_Mutation_p.G70W	NM_003212.3	NP_003203.1	P13385	TDGF1_HUMAN	teratocarcinoma-derived growth factor 1	86	EGF-like.				activation of MAPK activity|anterior/posterior axis specification, embryo|mammary gland development|morphogenesis of a branching structure|negative regulation of apoptosis|peptidyl-serine phosphorylation|positive regulation of cell migration|positive regulation of peptidyl-tyrosine phosphorylation	anchored to membrane|cell surface|extrinsic to plasma membrane	growth factor activity	p.G86W(1)		cervix(2)|endometrium(1)|kidney(1)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		CTGCCTGAATGGGGGAACCTG	0.527000													27	203					5.77227e-19	1.06645e-18	0.008361	1	0
MYEOV	26579	broad.mit.edu	37	11	69062910	69062910	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr11:69062910C>T	ENST00000308946.3	+	2	539	c.89C>T	c.(88-90)tCc>tTc	p.S30F	MYEOV_ENST00000441339.2_Missense_Mutation_p.S30F|MYEOV_ENST00000535407.1_5'UTR	NM_138768.2	NP_620123.2	Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	30								p.S30F(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		cagtctccctcctggtgtcAT	0.587000													20	84					0	0	0.010504	0	0
OR4C15	81309	broad.mit.edu	37	11	55322475	55322475	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr11:55322475G>C	ENST00000314644.2	+	1	693	c.693G>C	c.(691-693)atG>atC	p.M231I		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M231I(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						ATCACTTTATGTGTGACTTGT	0.463000										HNSCC(20;0.049)			14	61					0	0	0.002450	0	0
MYO1D	4642	broad.mit.edu	37	17	31075976	31075976	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr17:31075976G>A	ENST00000318217.5	-	12	1820	c.1516C>T	c.(1516-1518)Cga>Tga	p.R506*	MYO1D_ENST00000579584.1_Nonsense_Mutation_p.R506*|MYO1D_ENST00000584232.1_5'UTR|MYO1D_ENST00000394649.4_Nonsense_Mutation_p.R418*	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	506	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding	p.R506*(2)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			GCATAATGTCGAATTCGAAAA	0.373000													22	147					0	0	0.003330	0	0
SRPK3	26576	broad.mit.edu	37	X	153048470	153048470	+	Silent	SNP	C	C	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chrX:153048470C>A	ENST00000489426.1	+	13	3212	c.846C>A	c.(844-846)ccC>ccA	p.P282P	SRPK3_ENST00000370101.3_Silent_p.P215P|SRPK3_ENST00000370108.3_Silent_p.P215P|SRPK3_ENST00000370100.1_Silent_p.P173P|SRPK3_ENST00000393786.3_Silent_p.P215P|SRPK3_ENST00000370104.1_Silent_p.P215P			Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3	215	Protein kinase.				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity	p.P215P(1)|p.P282P(1)		breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					ACATCAAGCCCGAGAACATCT	0.652000													13	112					4.3838e-07	5.86405e-07	0.001855	1	0
TTN	7273	broad.mit.edu	37	2	179412988	179412988	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr2:179412988A>T	ENST00000589042.1	-	339	93589	c.93365T>A	c.(93364-93366)gTt>gAt	p.V31122D	TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V22057D|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V28554D|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V29481D|TTN_ENST00000359218.5_Missense_Mutation_p.V22182D|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V22249D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29481	Ig-like 139.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.V22249D(1)|p.V28552D(1)|p.V22182D(1)|p.V22057D(1)|p.V28554D(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTATCAACAACATCAAGTCT	0.483000													10	184					0	0	0.010729	0	0
THBS2	7058	broad.mit.edu	37	6	169626329	169626329	+	Silent	SNP	A	A	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr6:169626329A>T	ENST00000366787.3	-	17	2733	c.2484T>A	c.(2482-2484)ggT>ggA	p.G828G	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	828					cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	p.G828G(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CCACACCGTCACCATCCGTGT	0.537000													16	78					0	0	0.007413	0	0
NHS	4810	broad.mit.edu	37	X	17744628	17744628	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chrX:17744628T>C	ENST00000380060.3	+	6	2677	c.2339T>C	c.(2338-2340)gTc>gCc	p.V780A	NHS_ENST00000398097.3_Missense_Mutation_p.V624A	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	780						nucleus		p.V624A(1)|p.V780A(1)		breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					AAGAGCTATGTCTGTCACTAT	0.512000													34	264					0	0	0.003755	0	0
CYP2C19	1557	broad.mit.edu	37	10	96534881	96534881	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr10:96534881G>T	ENST00000371321.3	+	2	317	c.235G>T	c.(235-237)Gga>Tga	p.G79*	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	79					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	p.G79*(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	GGTGCTGCATGGATATGAAGT	0.458000													29	123					3.80469e-20	7.09291e-20	0.009535	1	0
PLCH1	23007	broad.mit.edu	37	3	155200774	155200774	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr3:155200774T>A	ENST00000460012.1	-	23	3308	c.2951A>T	c.(2950-2952)aAc>aTc	p.N984I	PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000414191.1_Missense_Mutation_p.N984I|PLCH1_ENST00000340059.7_Missense_Mutation_p.N1022I|PLCH1_ENST00000334686.6_Missense_Mutation_p.N984I|PLCH1_ENST00000494598.1_Intron			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1022					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	p.N1022I(1)|p.N984I(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TAACTTTTTGTTGAAATTTAG	0.408000													9	119					0	0	0.004482	0	0
SLITRK2	84631	broad.mit.edu	37	X	144906317	144906317	+	Missense_Mutation	SNP	C	C	G	rs148553713		TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chrX:144906317C>G	ENST00000370490.1	+	1	6629	c.2374C>G	c.(2374-2376)Cgc>Ggc	p.R792G	SLITRK2_ENST00000413937.2_Missense_Mutation_p.R792G|SLITRK2_ENST00000447897.2_Missense_Mutation_p.R792G|SLITRK2_ENST00000434188.2_Missense_Mutation_p.R792G|SLITRK2_ENST00000428560.2_Missense_Mutation_p.R792G			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	792						integral to membrane		p.R792G(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TGAATCTCGACGCCAAAACCA	0.453000													46	212					0	0	0.011902	0	0
TLE6	79816	broad.mit.edu	37	19	2989238	2989238	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr19:2989238G>T	ENST00000246112.4	+	12	1121	c.920G>T	c.(919-921)aGa>aTa	p.R307I	TLE6_ENST00000478073.2_3'UTR|TLE6_ENST00000452088.1_Missense_Mutation_p.R184I	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)	184					regulation of transcription, DNA-dependent	nucleus		p.R184I(1)|p.R307I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTGGCAGAAGAGGCATCAAG	0.602000													4	46					0.00909568	0.00973356	0.009096	1	0
CNR2	1269	broad.mit.edu	37	1	24201701	24201701	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr1:24201701C>T	ENST00000536471.1	-	3	665	c.407G>A	c.(406-408)cGc>cAc	p.R136H	CNR2_ENST00000374472.4_Missense_Mutation_p.R136H			P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	136					behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity	p.R136H(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Nabilone(DB00486)	AGGTGGATAGCGCAGGCAGAG	0.582000													24	122					0	0	0.006320	0	0
ZFHX4	79776	broad.mit.edu	37	8	77764254	77764254	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr8:77764254G>T	ENST00000521891.2	+	10	5545	c.5097G>T	c.(5095-5097)caG>caT	p.Q1699H	ZFHX4_ENST00000518282.1_Missense_Mutation_p.Q1673H|ZFHX4_ENST00000455469.2_Missense_Mutation_p.Q1654H|ZFHX4_ENST00000050961.6_Missense_Mutation_p.Q1654H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1654	Gln-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q1699H(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGCAACTACAGCACGAATTAC	0.438000										HNSCC(33;0.089)			7	89					5.4927e-09	7.99644e-09	0.004482	1	0
FAT3	120114	broad.mit.edu	37	11	92535011	92535011	+	Silent	SNP	C	C	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr11:92535011C>A	ENST00000298047.6	+	9	8849	c.8832C>A	c.(8830-8832)gcC>gcA	p.A2944A	FAT3_ENST00000409404.2_Silent_p.A2944A|FAT3_ENST00000525166.1_Silent_p.A2794A			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2944	Cadherin 27.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.A2944A(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGGTGGTAGCCGTCCTCAGCA	0.517000										TCGA Ovarian(4;0.039)			12	112					7.03913e-09	1.01403e-08	0.001368	1	0
SHANK1	50944	broad.mit.edu	37	19	51220030	51220030	+	Silent	SNP	A	A	G			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr19:51220030A>G	ENST00000293441.1	-	1	165	c.147T>C	c.(145-147)ggT>ggC	p.G49G	SHANK1_ENST00000391814.1_Silent_p.G49G|SHANK1_ENST00000359082.3_Silent_p.G49G	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	49					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	p.G49G(1)		breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		AGGCCAGGCTACCAGGTGCCC	0.692000													14	37					0	0	0.004007	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49687630	49687630	+	Splice_Site	SNP	C	C	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr10:49687630C>A	ENST00000374172.1	-	3	379		c.e3+1		ARHGAP22_ENST00000374170.1_Intron|ARHGAP22_ENST00000249601.4_Intron|ARHGAP22_ENST00000435790.2_Intron|ARHGAP22_ENST00000417247.2_Intron|ARHGAP22_ENST00000417912.2_Splice_Site			Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22						angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GGCATGATTACCTGGAGGCAA	0.637000													11	39					4.14922e-12	6.70383e-12	0.004007	1	0
PIEZO2	63895	broad.mit.edu	37	18	10680359	10680359	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr18:10680359G>T	ENST00000302079.6	-	47	7260	c.7261C>A	c.(7261-7263)Caa>Aaa	p.Q2421K	PIEZO2_ENST00000503781.3_Missense_Mutation_p.Q2484K|PIEZO2_ENST00000580640.1_Missense_Mutation_p.Q2509K|PIEZO2_ENST00000538948.1_Missense_Mutation_p.Q441K|PIEZO2_ENST00000285141.4_Missense_Mutation_p.Q276K|PIEZO2_ENST00000581680.1_5'UTR			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2484						integral to membrane	ion channel activity	p.Q276K(1)|p.Q2484K(1)									TCCAGAAATTGCATAGCACCC	0.378000													6	91					0.00307968	0.00336559	0.003080	1	0
TRPA1	8989	broad.mit.edu	37	8	72942164	72942164	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr8:72942164T>A	ENST00000262209.4	-	24	3116	c.2909A>T	c.(2908-2910)cAt>cTt	p.H970L	RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	970						integral to plasma membrane		p.H970L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	CAATGATGCATGTTTCTGGAC	0.388000													16	61					0	0	0.004007	0	0
ZNF80	7634	broad.mit.edu	37	3	113955452	113955452	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr3:113955452C>T	ENST00000482457.2	-	1	973	c.470G>A	c.(469-471)gGa>gAa	p.G157E		NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	157						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G157E(1)		NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				GAGTTTTTCTCCAGTGTGGGT	0.483000													11	119					0	0	0.001368	0	0
PAPPA2	60676	broad.mit.edu	37	1	176668684	176668684	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr1:176668684G>T	ENST00000367662.3	+	8	4359	c.3195G>T	c.(3193-3195)ttG>ttT	p.L1065F		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1065					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.L1065F(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCAGTGGTTTGCCCGTGGTGG	0.567000													75	236					4.41824e-40	8.75151e-40	0.003610	1	0
FAR2P1	440905	broad.mit.edu	37	2	130786009	130786009	+	RNA	SNP	C	C	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr2:130786009C>A	ENST00000325390.3	-	0	2858					NR_026758.1																						CTCGTCAAAGCTCTCTCAAAT	0.468000													3	13					0.00909568	0.00973356	0.009096	1	0
KRT7	3855	broad.mit.edu	37	12	52639362	52639362	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr12:52639362C>T	ENST00000331817.5	+	7	1334	c.1151C>T	c.(1150-1152)gCc>gTc	p.A384V	KRT7_ENST00000552322.1_3'UTR|RP3-416H24.1_ENST00000546686.1_RNA	NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7	384	Coil 2.|Rod.				cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity	p.A384V(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)		GTGAAGCTGGCCCTGGACATC	0.637000													4	90					0	0	0.001168	0	0
APOB	338	broad.mit.edu	37	2	21235206	21235206	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr2:21235206C>A	ENST00000233242.1	-	26	4661	c.4534G>T	c.(4534-4536)Ggc>Tgc	p.G1512C		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1512					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.G1512C(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTGAGCCGGCCAGTGTTAGGA	0.478000													12	79					5.50884e-06	6.98351e-06	0.001368	1	0
CBLN1	869	broad.mit.edu	37	16	49313499	49313499	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr16:49313499A>C	ENST00000219197.6	-	3	763	c.398T>G	c.(397-399)cTa>cGa	p.L133R	CBLN1_ENST00000536749.1_Missense_Mutation_p.L133R	NM_004352.3	NP_004343.1	P23435	CBLN1_HUMAN	cerebellin 1 precursor	133	C1q.|Necessary for interaction with CBLN3, and homotrimerization (By similarity).				nervous system development|synaptic transmission	cell junction|extracellular region|synapse		p.L133R(1)		breast(1)|kidney(3)|large_intestine(2)|lung(3)	9		all_cancers(37;0.0766)|all_lung(18;0.24)				CCACCCGTTTAGCATGAGGCT	0.607000													8	56					0	0	0.006214	0	0
PHF6	84295	broad.mit.edu	37	X	133549067	133549067	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chrX:133549067C>A	ENST00000332070.3	+	8	953	c.751C>A	c.(751-753)Cag>Aag	p.Q251K	PHF6_ENST00000370799.1_Missense_Mutation_p.Q252K|PHF6_ENST00000394292.1_Missense_Mutation_p.Q252K|PHF6_ENST00000370800.4_Missense_Mutation_p.Q252K|PHF6_ENST00000416404.2_Missense_Mutation_p.Q217K|PHF6_ENST00000370803.3_Missense_Mutation_p.Q251K	NM_032458.2	NP_115834.1	Q8IWS0	PHF6_HUMAN	PHD finger protein 6	251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	zinc ion binding	p.Q251K(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1)	103	Acute lymphoblastic leukemia(192;0.000127)					TGGCACAGTCCAGCTCACAAC	0.328000			"""F, N, Splice, Mis"""		ETP ALL								4	45					0.00024832	0.000289005	0.009096	1	0
HTR5A	3361	broad.mit.edu	37	7	154862977	154862977	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr7:154862977T>C	ENST00000287907.2	+	1	944	c.368T>C	c.(367-369)cTt>cCt	p.L123P	AC093726.4_ENST00000493904.1_5'UTR|AC093726.4_ENST00000395731.2_Missense_Mutation_p.S13G|AC093726.4_ENST00000543018.1_Missense_Mutation_p.S13G	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	123						integral to plasma membrane	serotonin receptor activity	p.L123P(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		TGCGACGTGCTTTGCTGCACG	0.667000													10	32					0	0	0.001368	0	0
ZNF674	641339	broad.mit.edu	37	X	46387869	46387869	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chrX:46387869C>A	ENST00000523374.1	-	5	364	c.154G>T	c.(154-156)Ggg>Tgg	p.G52W	ZNF674_ENST00000414387.2_Missense_Mutation_p.G52W	NM_001039891.2|NM_001146291.1|NM_001190417.1	NP_001034980.1|NP_001139763.1|NP_001177346.1	Q2M3X9	ZN674_HUMAN	zinc finger protein 674	52	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)	2						TCTGGCTTCCCAACTAGATGC	0.567000													17	114					4.35082e-09	6.42486e-09	0.010504	1	0
SLC6A2	6530	broad.mit.edu	37	16	55728015	55728015	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr16:55728015A>T	ENST00000379906.2	+	6	1267	c.1012A>T	c.(1012-1014)Aac>Tac	p.N338Y	SLC6A2_ENST00000219833.8_Missense_Mutation_p.N338Y|SLC6A2_ENST00000568943.1_Missense_Mutation_p.N338Y|SLC6A2_ENST00000567238.1_Missense_Mutation_p.N233Y|SLC6A2_ENST00000561820.1_Missense_Mutation_p.N338Y|SLC6A2_ENST00000414754.3_Missense_Mutation_p.N338Y|SLC6A2_ENST00000566163.1_Missense_Mutation_p.N293Y	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	338					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity	p.N338Y(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	ATTTGACAACAACTGTTACAG	0.438000													32	161					0	0	0.003271	0	0
ITPKB	3707	broad.mit.edu	37	1	226836376	226836376	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr1:226836376C>T	ENST00000429204.1	-	3	2356	c.2029G>A	c.(2029-2031)Gca>Aca	p.A677T	ITPKB_ENST00000272117.3_Missense_Mutation_p.A677T	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	677							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	p.A677T(1)|p.A203T(1)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				TGTCTACCTGCGTGTCCTGCC	0.547000													10	173					0	0	0.008291	0	0
PSG5	5673	broad.mit.edu	37	19	43683099	43683099	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr19:43683099G>T	ENST00000599812.1	-	3	736	c.641C>A	c.(640-642)cCc>cAc	p.P214H	PSG5_ENST00000342951.6_Intron|PSG5_ENST00000366175.3_Intron|PSG5_ENST00000407356.1_Intron|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000404580.1_Intron			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	119	Ig-like C2-type 1.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				ACATTCATAGGGTCCTGCAAT	0.502000													60	317					2.20561e-19	4.0933e-19	0.003610	1	0
CROCCP2	84809	broad.mit.edu	37	1	16959698	16959698	+	RNA	SNP	G	G	A	rs9730434	by1000genomes	TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr1:16959698G>A	ENST00000412962.1	-	0	74																		p.H56H(4)									GGTCCTTCTCGTGGAGCACCT	0.657000													8	28					0	0	0.003080	0	0
TENM1	10178	broad.mit.edu	37	X	123515111	123515111	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chrX:123515111G>T	ENST00000422452.2	-	32	7537	c.7474C>A	c.(7474-7476)Cag>Aag	p.Q2492K	TENM1_ENST00000371130.3_Missense_Mutation_p.Q2485K|STAG2_ENST00000469481.1_Intron	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1									p.Q2487K(1)									TTCCTGAGCTGTTTCTGGAGT	0.478000													27	191					2.08457e-15	3.67027e-15	0.010818	1	0
SGOL1	151648	broad.mit.edu	37	3	20216127	20216127	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr3:20216127T>C	ENST00000412997.1	-	6	1247	c.896A>G	c.(895-897)aAc>aGc	p.N299S	SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000437051.1_Intron|SGOL1_ENST00000412868.1_Missense_Mutation_p.N299S|SGOL1_ENST00000417364.1_Intron|SGOL1_ENST00000443724.1_Intron|SGOL1_ENST00000452020.1_Intron|SGOL1_ENST00000429446.3_Intron|SGOL1_ENST00000421451.1_Missense_Mutation_p.N299S|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000383774.1_Intron|SGOL1_ENST00000419233.2_Intron|SGOL1_ENST00000425061.1_Intron|SGOL1_ENST00000306698.2_Intron|SGOL1_ENST00000442720.1_Intron|SGOL1_ENST00000263753.4_Missense_Mutation_p.N299S	NM_001199251.1	NP_001186180.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	299					attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding	p.N299S(1)		kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						ttttctcctgttagcttttct	0.279000													6	55					0	0	0.001984	0	0
FUT11	170384	broad.mit.edu	37	10	75532609	75532609	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr10:75532609G>A	ENST00000372841.3	+	1	561	c.518G>A	c.(517-519)cGc>cAc	p.R173H	FUT11_ENST00000465695.1_3'UTR|FUT11_ENST00000394790.1_Missense_Mutation_p.R173H	NM_173540.2	NP_775811.2	Q495W5	FUT11_HUMAN	fucosyltransferase 11 (alpha (1,3) fucosyltransferase)	173					protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	p.R173H(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7	Prostate(51;0.0112)					ACCTTCAGTCGCCACTCGGAT	0.687000													15	35					0	0	0.007413	0	0
DGKK	139189	broad.mit.edu	37	X	50119912	50119912	+	RNA	SNP	A	A	G			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chrX:50119912A>G	ENST00000376025.2	-	0	3175							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	p.F807F(1)		central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TTGAGTTCTCAAAGTCCTGGA	0.478000													9	34					0	0	0.008291	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121651440	121651440	+	Silent	SNP	C	C	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr7:121651440C>A	ENST00000393386.2	+	12	2751	c.2340C>A	c.(2338-2340)atC>atA	p.I780I	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	780					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.I780I(2)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ACAATCAGATCCTCAACACTA	0.473000													16	267					4.14922e-12	6.70383e-12	0.004007	1	0
SPATA31D1	389763	broad.mit.edu	37	9	84606311	84606311	+	Missense_Mutation	SNP	G	G	T	rs147400236	by1000genomes	TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr9:84606311G>T	ENST00000344803.2	+	4	973	c.926G>T	c.(925-927)tGc>tTc	p.C309F		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1									p.C309F(2)									CCGGAAGATTGCACTGTGACT	0.488000													32	356					2.08457e-15	3.67027e-15	0.010818	1	0
ASXL2	55252	broad.mit.edu	37	2	25967101	25967101	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr2:25967101C>T	ENST00000435504.4	-	13	2398	c.2105G>A	c.(2104-2106)gGa>gAa	p.G702E	ASXL2_ENST00000404843.1_Missense_Mutation_p.G442E|ASXL2_ENST00000336112.4_Missense_Mutation_p.G674E|ASXL2_ENST00000272341.4_Missense_Mutation_p.G442E			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	702	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	p.G702E(1)|p.G442E(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACCACCCTCTCCTGGACCTTG	0.642000													13	178					0	0	0.003163	0	0
ZNF81	347344	broad.mit.edu	37	X	47774732	47774732	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chrX:47774732G>C	ENST00000376954.1	+	6	1055	c.687G>C	c.(685-687)caG>caC	p.Q229H	ZNF81_ENST00000338637.7_Missense_Mutation_p.Q229H			P51508	ZNF81_HUMAN	zinc finger protein 81	229						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q229H(1)		breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				TTTTTACCCAGAACTCTTCTT	0.373000													10	111					0	0	0.008291	0	0
KIAA2022	340533	broad.mit.edu	37	X	73963899	73963899	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chrX:73963899G>C	ENST00000373468.1	-	3	1144	c.493C>G	c.(493-495)Ctg>Gtg	p.L165V	KIAA2022_ENST00000055682.5_Missense_Mutation_p.L165V			Q5QGS0	K2022_HUMAN	KIAA2022	165					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	p.L165V(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CCAACTTTCAGACTGATCCCT	0.448000													10	117					0	0	0.008291	0	0
OR10R2	343406	broad.mit.edu	37	1	158450421	158450421	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr1:158450421G>T	ENST00000368152.1	+	1	754	c.754G>T	c.(754-756)Gag>Tag	p.E252*	RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	252					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E252*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					TCCCTCAGCTGAGGGCAGACG	0.453000													21	99					1.28384e-07	1.72294e-07	0.012319	1	0
TCHP	84260	broad.mit.edu	37	12	110348913	110348913	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr12:110348913G>T	ENST00000312777.5	+	9	1139	c.925G>T	c.(925-927)Gag>Tag	p.E309*	TCHP_ENST00000405876.4_Nonsense_Mutation_p.E309*	NM_032300.4	NP_115676.1	Q9BT92	TCHP_HUMAN	trichoplein, keratin filament binding	309	Glu-rich.|Interaction with keratin proteins.|Trichohyalin/plectin homology domain.				apoptosis|negative regulation of cell growth	apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane	protein binding	p.E309*(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2)	22						GAAGGAGGACGAGAGCCAGCG	0.667000													3	13					0.004672	0.00506543	0.004672	1	0
SH3BP5L	80851	broad.mit.edu	37	1	249110823	249110823	+	Silent	SNP	C	C	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr1:249110823C>A	ENST00000366472.5	-	4	1514	c.285G>T	c.(283-285)tcG>tcT	p.S95S	SH3BP5L_ENST00000411742.2_Silent_p.S63S|SH3BP5L_ENST00000475978.1_5'UTR	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	95								p.S95S(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GTTTCCTCGCCGACTCCTGTA	0.582000													11	161					1.58986e-06	2.08606e-06	0.008291	1	0
MAMLD1	10046	broad.mit.edu	37	X	149639226	149639226	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chrX:149639226G>C	ENST00000370401.2	+	4	1691	c.1381G>C	c.(1381-1383)Gag>Cag	p.E461Q	MAMLD1_ENST00000262858.5_Missense_Mutation_p.E461Q|MAMLD1_ENST00000426613.2_Missense_Mutation_p.E436Q|MAMLD1_ENST00000432680.2_Missense_Mutation_p.E436Q			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	461					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.E461Q(1)|p.E436Q(1)|p.E388Q(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					CTATCGCCCAGAGAAGCTCTC	0.572000													22	225					0	0	0.003330	0	0
CLCN1	1180	broad.mit.edu	37	7	143013364	143013364	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr7:143013364C>A	ENST00000343257.2	+	1	146	c.59C>A	c.(58-60)cCc>cAc	p.P20H		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	20					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	p.P20H(1)		breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GGTAGTGACCCCCAGTACCAG	0.642000													25	208					4.4004e-07	5.8672e-07	0.003330	1	0
RP1L1	94137	broad.mit.edu	37	8	10470413	10470413	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr8:10470413C>A	ENST00000382483.3	-	4	1418	c.1195G>T	c.(1195-1197)Ggg>Tgg	p.G399W		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	399					intracellular signal transduction			p.G399W(1)|p.G399R(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCTGGCTGCCCGCCTCGGCCA	0.657000													11	102					0.000151284	0.000179107	0.001855	1	0
FLG2	388698	broad.mit.edu	37	1	152326733	152326733	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr1:152326733T>C	ENST00000388718.5	-	3	3601	c.3529A>G	c.(3529-3531)Aca>Gca	p.T1177A	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1177	Ser-rich.						calcium ion binding|structural molecule activity	p.T1177A(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAAAACTTGTGGTTGGACCT	0.483000													21	180					0	0	0.010504	0	0
ZNF716	441234	broad.mit.edu	37	7	57529005	57529005	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr7:57529005C>A	ENST00000420713.1	+	4	950	c.838C>A	c.(838-840)Cgc>Agc	p.R280S		NM_001159279.1	NP_001152751.1			zinc finger protein 716									p.R280S(2)		breast(1)|kidney(1)|lung(20)|ovary(2)	24						AGTCTTTAGCCGCTCAACACT	0.413000													10	28					4.68919e-08	6.50487e-08	0.008291	1	0
ATG4A	115201	broad.mit.edu	37	X	107381398	107381398	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chrX:107381398C>A	ENST00000372232.3	+	9	950	c.791C>A	c.(790-792)gCg>gAg	p.A264E	ATG4A_ENST00000372254.3_Missense_Mutation_p.A240E|ATG4A_ENST00000545696.1_Intron|ATG4A_ENST00000345734.3_Intron	NM_052936.3	NP_443168.2	Q8WYN0	ATG4A_HUMAN	autophagy related 4A, cysteine peptidase	264					autophagy|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity	p.A264E(2)		endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)	11						CCAAATAACGCGTATTATTTC	0.458000													47	311					8.00217e-19	1.47183e-18	0.003610	1	0
TMTC1	83857	broad.mit.edu	37	12	29911688	29911688	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr12:29911688G>T	ENST00000256062.5	-	3	652	c.179C>A	c.(178-180)gCg>gAg	p.A60E	TMTC1_ENST00000539277.1_Missense_Mutation_p.A168E|TMTC1_ENST00000381224.2_Missense_Mutation_p.A60E|TMTC1_ENST00000551659.1_Missense_Mutation_p.A168E|TMTC1_ENST00000552618.1_Missense_Mutation_p.A168E	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	168						integral to membrane	binding	p.A60E(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					TAACACGTCCGCTCTGCCAAC	0.413000													4	17					0.000602214	0.000677903	0.000602	1	0
OTOS	150677	broad.mit.edu	37	2	241078631	241078631	+	Silent	SNP	G	G	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr2:241078631G>A	ENST00000391989.2	-	5	456	c.226C>T	c.(226-228)Ctg>Ttg	p.L76L	OTOS_ENST00000319460.1_Silent_p.L76L			Q8NHW6	OTOSP_HUMAN	otospiralin	76						extracellular region		p.L76L(1)		endometrium(2)|large_intestine(1)|lung(3)	6		all_epithelial(40;2.79e-15)|Breast(86;3.04e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|Hepatocellular(293;0.148)|all_hematologic(139;0.158)|Melanoma(123;0.16)		Epithelial(32;2.56e-30)|all cancers(36;7.18e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.37e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.07e-06)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		GTGCTCCCCAGGGGGAAGTGG	0.652000													23	80					0	0	0.003330	0	0
TRRAP	8295	broad.mit.edu	37	7	98495465	98495465	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr7:98495465G>C	ENST00000359863.4	+	8	818	c.609G>C	c.(607-609)gaG>gaC	p.E203D	TRRAP_ENST00000355540.3_Missense_Mutation_p.E203D|TRRAP_ENST00000446306.3_Missense_Mutation_p.E203D	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	203					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	p.E203D(2)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCAACCCGGAGCGTGAGGACA	0.473000													28	146					0	0	0.009535	0	0
GPA33	10223	broad.mit.edu	37	1	167025041	167025041	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr1:167025041G>T	ENST00000367868.3	-	5	960	c.617C>A	c.(616-618)tCg>tAg	p.S206*	RP11-102C16.3_ENST00000417644.1_RNA|GPA33_ENST00000527955.1_5'UTR	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN	glycoprotein A33 (transmembrane)	206	Ig-like C2-type.					integral to plasma membrane	receptor activity	p.S206*(1)		endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						GTAGTAACCCGATGTGTCTGT	0.572000													34	107					3.11337e-16	5.55286e-16	0.002836	1	0
CPD	1362	broad.mit.edu	37	17	28754530	28754530	+	Silent	SNP	C	C	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr17:28754530C>T	ENST00000225719.4	+	7	2047	c.1971C>T	c.(1969-1971)agC>agT	p.S657S	CPD_ENST00000543464.2_Silent_p.S410S	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	657	Carboxypeptidase-like 2.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding	p.S657S(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						CTGTAATGAGCTGGATGAAGT	0.408000													24	179					0	0	0.003330	0	0
NLRP2	55655	broad.mit.edu	37	19	55501959	55501959	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr19:55501959C>A	ENST00000543010.1	+	10	2770	c.2627C>A	c.(2626-2628)gCc>gAc	p.A876D	NLRP2_ENST00000538819.1_Missense_Mutation_p.A852D|NLRP2_ENST00000448584.2_Missense_Mutation_p.A876D|NLRP2_ENST00000537859.1_Missense_Mutation_p.A854D|NLRP2_ENST00000391721.4_Missense_Mutation_p.A852D|NLRP2_ENST00000427260.2_Missense_Mutation_p.A853D|NLRP2_ENST00000339757.7_Missense_Mutation_p.A854D|NLRP2_ENST00000263437.6_Missense_Mutation_p.A873D	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	876					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	p.A876D(1)		large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CTGTGCTTGGCCAAGAACCCC	0.522000													8	123					5.4927e-09	7.99644e-09	0.004482	1	0
USH2A	7399	broad.mit.edu	37	1	216019167	216019167	+	Splice_Site	SNP	C	C	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr1:216019167C>A	ENST00000366943.2	-	45	9440	c.9055_splice	c.e45+1	p.G3018_splice	USH2A_ENST00000307340.3_Splice_Site_p.G3018_splice			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3018					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.G3018G(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGGACTCACCCCCATCGCAAG	0.438000										HNSCC(13;0.011)			7	46					5.18039e-06	6.58741e-06	0.003080	1	0
SNHG14	104472715	broad.mit.edu	37	15	25415785	25415785	+	RNA	SNP	G	G	C			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr15:25415785G>C	ENST00000549301.1	+	0	299				SNHG14_ENST00000553149.1_RNA																							GGCCATTCCTGATGCCCTGGC	0.642000													8	70					0	0	0.004482	0	0
MYH8	4626	broad.mit.edu	37	17	10301785	10301785	+	Missense_Mutation	SNP	C	C	A	rs147143044		TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr17:10301785C>A	ENST00000403437.2	-	30	4248	c.4154G>T	c.(4153-4155)cGc>cTc	p.R1385L	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1385					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	p.R1385L(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CTCCTCTGTGCGCTGGATGGC	0.512000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				47	227					1.38658e-30	2.73335e-30	0.003610	1	0
ARHGAP5	394	broad.mit.edu	37	14	32563233	32563233	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr14:32563233A>G	ENST00000345122.3	+	2	3673	c.3358A>G	c.(3358-3360)Aaa>Gaa	p.K1120E	ARHGAP5_ENST00000556611.1_Missense_Mutation_p.K1120E|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.K1120E|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.K1120E	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	1120					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	p.K1120E(1)		NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		AAATCGTATTAAAATTCGAAA	0.363000													3	84					0	0	0.004672	0	0
ZBTB46	140685	broad.mit.edu	37	20	62421767	62421767	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr20:62421767G>T	ENST00000245663.4	-	2	494	c.344C>A	c.(343-345)aCg>aAg	p.T115K	ZBTB46_ENST00000302995.2_Missense_Mutation_p.T115K|ZBTB46_ENST00000395104.1_Missense_Mutation_p.T115K	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	115					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.T115K(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CACGATGTCCGTCATCTGCAG	0.597000													3	21					6.4e-05	7.73426e-05	0.004672	1	0
UPF3B	65109	broad.mit.edu	37	X	118975155	118975155	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chrX:118975155C>A	ENST00000276201.2	-	7	760	c.691G>T	c.(691-693)Gaa>Taa	p.E231*	UPF3B_ENST00000478840.1_5'UTR|UPF3B_ENST00000345865.2_Nonsense_Mutation_p.E231*	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	231	Necessary for interaction with UPF2.|Sufficient for association with EJC core.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding	p.E231*(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						ctcctctcttcttctctttgt	0.343000													8	49					0.000274275	0.00031653	0.004482	1	0
MAMLD1	10046	broad.mit.edu	37	X	149638622	149638622	+	Silent	SNP	G	G	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chrX:149638622G>A	ENST00000370401.2	+	4	1087	c.777G>A	c.(775-777)ggG>ggA	p.G259G	MAMLD1_ENST00000262858.5_Silent_p.G259G|MAMLD1_ENST00000426613.2_Silent_p.G234G|MAMLD1_ENST00000432680.2_Silent_p.G234G			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	259					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.G186G(1)|p.G234G(1)|p.G259G(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCCACAGGGATCAGCTATT	0.527000													18	284					0	0	0.003954	0	0
RIMBP2	23504	broad.mit.edu	37	12	130912844	130912844	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr12:130912844G>T	ENST00000261655.4	-	12	2404	c.2241C>A	c.(2239-2241)agC>agA	p.S747R		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	747						cell junction|synapse		p.S747R(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		ACCCCCGGCTGCTCTCTGTGT	0.617000													14	96					3.41278e-10	5.22701e-10	0.004990	1	0
WARS2	10352	broad.mit.edu	37	1	119576771	119576771	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr1:119576771T>A	ENST00000369426.5	-	5	584	c.581A>T	c.(580-582)cAa>cTa	p.Q194L	WARS2_ENST00000235521.4_Missense_Mutation_p.Q194L|WARS2_ENST00000537870.1_Missense_Mutation_p.Q100L			Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	194					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity	p.Q194L(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	GTTGAAACCTTGTGCTAGATC	0.413000													16	121					0	0	0.004990	0	0
TSLP	85480	broad.mit.edu	37	5	110407675	110407675	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr5:110407675C>A	ENST00000420978.2	+	2	1509	c.87C>A	c.(85-87)taC>taA	p.Y29*	TSLP_ENST00000344895.3_Nonsense_Mutation_p.Y29*			Q969D9	TSLP_HUMAN	thymic stromal lymphopoietin	29						extracellular space	cytokine activity	p.Y29*(1)		breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11		all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109)		TGTTAACTTACGACTTCACTA	0.383000													21	161					1.96292e-10	3.05179e-10	0.010504	1	0
XAB2	56949	broad.mit.edu	37	19	7684528	7684528	+	Silent	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr19:7684528G>T	ENST00000358368.4	-	19	2549	c.2512C>A	c.(2512-2514)Cgg>Agg	p.R838R	XAB2_ENST00000534844.1_Silent_p.R835R	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	838					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding	p.R835R(1)		breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						TGCTCCAGCCGAACCTCTGTG	0.701000								Direct reversal of damage;Nucleotide excision repair (NER)					4	35					1.23904e-05	1.54225e-05	0.000602	1	0
ADSSL1	122622	broad.mit.edu	37	14	105201358	105201358	+	Splice_Site	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr14:105201358G>T	ENST00000332972.5	+	2	482	c.321_splice	c.e2-1	p.G108_splice	ADSSL1_ENST00000330877.2_Splice_Site_p.G65_splice	NM_199165.1	NP_954634.1	Q8N142	PURA1_HUMAN	adenylosuccinate synthase like 1	65					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding	p.G108V(1)		central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	L-Aspartic Acid(DB00128)	CTGTTCCAGGGGGGCAACAAC	0.617000													6	30					1.06961e-07	1.44961e-07	0.003080	1	0
USP9X	8239	broad.mit.edu	37	X	41012324	41012324	+	Silent	SNP	A	A	G			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chrX:41012324A>G	ENST00000324545.7	+	14	2520	c.1887A>G	c.(1885-1887)ctA>ctG	p.L629L	USP9X_ENST00000378308.2_Silent_p.L629L	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	629					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	p.L629L(1)|p.L622L(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GCATGAGACTATATGCTAGAG	0.338000													24	109					0	0	0.003954	0	0
LAMB1	3912	broad.mit.edu	37	7	107603427	107603427	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr7:107603427C>A	ENST00000393561.1	-	13	2036	c.1852G>T	c.(1852-1854)Ggg>Tgg	p.G618W	LAMB1_ENST00000393560.1_Missense_Mutation_p.G594W|LAMB1_ENST00000222399.6_Missense_Mutation_p.G594W			P07942	LAMB1_HUMAN	laminin, beta 1	594	Laminin IV type B.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	p.G594W(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AAATAAGCCCCTTCAGGCACT	0.502000													6	225					1.06961e-07	1.44961e-07	0.003080	1	0
CSMD1	64478	broad.mit.edu	37	8	2949091	2949091	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr8:2949091C>T	ENST00000520002.1	-	49	7790	c.7235G>A	c.(7234-7236)cGc>cAc	p.R2412H	CSMD1_ENST00000602557.1_Missense_Mutation_p.R2412H|CSMD1_ENST00000400186.3_Missense_Mutation_p.R2412H|CSMD1_ENST00000542608.1_Missense_Mutation_p.R2411H|CSMD1_ENST00000537824.1_Missense_Mutation_p.R2411H|CSMD1_ENST00000602723.1_Missense_Mutation_p.R2412H			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2412	CUB 14.					integral to membrane		p.R2140H(1)|p.R2411H(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AGTGGACCAGCGGAGATATAA	0.383000													8	30					0	0	0.006214	0	0
TCEA3	6920	broad.mit.edu	37	1	23743829	23743829	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr1:23743829T>A	ENST00000450454.2	-	4	399	c.293A>T	c.(292-294)aAg>aTg	p.K98M	TCEA3_ENST00000374601.3_Missense_Mutation_p.K98M|TCEA3_ENST00000461794.1_Missense_Mutation_p.K61M	NM_003196.1	NP_003187.1	O75764	TCEA3_HUMAN	transcription elongation factor A (SII), 3	98					regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	nucleus	DNA binding|translation elongation factor activity|zinc ion binding	p.K98M(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198)		tttttccttcttctttgcctt	0.468000													12	119					0	0	0.010729	0	0
PDZD4	57595	broad.mit.edu	37	X	153069157	153069157	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chrX:153069157C>A	ENST00000164640.4	-	8	2152	c.1961G>T	c.(1960-1962)cGg>cTg	p.R654L	PDZD4_ENST00000393758.2_Missense_Mutation_p.R579L|PDZD4_ENST00000544474.1_Missense_Mutation_p.R545L	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	654						cell cortex		p.R654L(1)		breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCGCTCCTCCCGGATCTTCAG	0.652000													16	92					1.5739e-10	2.45623e-10	0.004007	1	0
NXF4	55999	broad.mit.edu	37	X	101818324	101818324	+	RNA	SNP	T	T	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chrX:101818324T>A	ENST00000360035.2	+	0	914					NR_002216.1													p.P57P(1)		endometrium(2)|lung(8)	10						GTCAGGCCCCTTACAGCCTTC	0.507000													6	66					0	0	0.001984	0	0
MROH1	727957	broad.mit.edu	37	8	145235188	145235188	+	Silent	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr8:145235188G>T	ENST00000528919.1	+	5	529	c.408G>T	c.(406-408)ggG>ggT	p.G136G	MROH1_ENST00000423230.2_Silent_p.G136G|MROH1_ENST00000326134.5_Silent_p.G136G|MROH1_ENST00000398656.4_Silent_p.G136G|MROH1_ENST00000534366.1_Silent_p.G136G	NM_032450.2	NP_115826.2			maestro heat-like repeat family member 1									p.G136G(1)									TGCACCCTGGGACCCTGCCAC	0.697000													6	36					2.0095e-06	2.6283e-06	0.001984	1	0
LILRB5	10990	broad.mit.edu	37	19	54760185	54760185	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr19:54760185G>T	ENST00000316219.5	-	4	483	c.376C>A	c.(376-378)Ctt>Att	p.L126I	LILRB5_ENST00000449561.2_Missense_Mutation_p.L126I|LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000450632.1_Intron	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	126	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	p.L126I(1)|p.?(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AGGGCTAAAAGAGTGGGTTCT	0.552000													21	88					1.22574e-08	1.75349e-08	0.002299	1	0
CMYA5	202333	broad.mit.edu	37	5	79026350	79026350	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr5:79026350G>T	ENST00000446378.2	+	2	1793	c.1762G>T	c.(1762-1764)Gtt>Ttt	p.V588F		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	588	Glu-rich.					perinuclear region of cytoplasm		p.V588F(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AATTGCATCTGTTTCTACTGG	0.423000													64	360					4.60868e-44	9.26233e-44	0.003610	1	0
MED12L	116931	broad.mit.edu	37	3	150881712	150881712	+	Silent	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr3:150881712G>T	ENST00000474524.1	+	8	1178	c.1140G>T	c.(1138-1140)gtG>gtT	p.V380V	MED12L_ENST00000422248.2_Silent_p.V380V|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000309237.4_Silent_p.V380V	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	380					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.V380V(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GTGCCTTGGTGTGGAATTATT	0.493000													9	107					0.000442599	0.000502344	0.006214	1	0
GUCY2F	2986	broad.mit.edu	37	X	108708514	108708514	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chrX:108708514C>A	ENST00000218006.2	-	3	1180	c.889G>T	c.(889-891)Gtc>Ttc	p.V297F		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	297					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	p.V297F(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TTCCTTAGGACCCGGTAGGGG	0.478000													42	181					2.59497e-14	4.47334e-14	0.007835	1	0
CFHR2	3080	broad.mit.edu	37	1	196928066	196928066	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr1:196928066G>A	ENST00000367415.4	+	5	783	c.669G>A	c.(667-669)tgG>tgA	p.W223*	CFHR2_ENST00000367421.3_Nonsense_Mutation_p.W223*|CFHR2_ENST00000476712.1_3'UTR	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	223	Sushi 4.					extracellular region		p.W223*(1)		large_intestine(2)|ovary(1)|skin(3)	6						AATTAAAGTGGACAAACCAAC	0.279000													3	37					0	0	0.000602	0	0
KDR	3791	broad.mit.edu	37	4	55968660	55968660	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr4:55968660G>A	ENST00000263923.4	-	14	2298	c.2003C>T	c.(2002-2004)aCg>aTg	p.T668M		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	668	Ig-like C2-type 7.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	p.T668M(1)|p.T668K(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TCCTGTGATCGTGGGTGCCAC	0.428000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			7	91					0	0	0.004482	0	0
CD1E	913	broad.mit.edu	37	1	158325701	158325701	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr1:158325701C>A	ENST00000444681.2	+	3	706	c.413C>A	c.(412-414)cCa>cAa	p.P138Q	CD1E_ENST00000368156.1_Missense_Mutation_p.P147Q|CD1E_ENST00000368163.3_Missense_Mutation_p.P237Q|CD1E_ENST00000368166.3_Missense_Mutation_p.P48Q|CD1E_ENST00000368164.3_Missense_Mutation_p.P48Q|CD1E_ENST00000368155.3_Missense_Mutation_p.P147Q|CD1E_ENST00000368165.3_Missense_Mutation_p.P147Q|CD1E_ENST00000368157.1_Missense_Mutation_p.P48Q|CD1E_ENST00000368167.3_Missense_Mutation_p.P237Q|CD1E_ENST00000368161.3_Missense_Mutation_p.P237Q|CD1E_ENST00000434258.1_Missense_Mutation_p.P235Q|CD1E_ENST00000452291.2_Missense_Mutation_p.P48Q|CD1E_ENST00000368160.3_Missense_Mutation_p.P237Q|CD1E_ENST00000368154.1_Missense_Mutation_p.P48Q	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	237					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		p.P237Q(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GGATTCTACCCAAAGCCCGTG	0.607000													27	90					1.55811e-20	2.91792e-20	0.008361	1	0
PRDM10	56980	broad.mit.edu	37	11	129801996	129801996	+	Splice_Site	SNP	C	C	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr11:129801996C>A	ENST00000358825.5	-	10	1519		c.e10+1		PRDM10_ENST00000528746.1_Splice_Site|PRDM10_ENST00000526082.1_Splice_Site|PRDM10_ENST00000423662.2_Splice_Site|PRDM10_ENST00000360871.3_Splice_Site|PRDM10_ENST00000304538.6_Splice_Site	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.?(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		TCCCCCCGTACCTGTGTCCCA	0.562000													17	100					1.33834e-09	1.99781e-09	0.007413	1	0
LRRC59	55379	broad.mit.edu	37	17	48462617	48462617	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr17:48462617T>C	ENST00000225972.7	-	6	773	c.538A>G	c.(538-540)Aag>Gag	p.K180E		NM_018509.3	NP_060979.2	Q96AG4	LRC59_HUMAN	leucine rich repeat containing 59	180						endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial nucleoid	protein binding	p.K180E(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			TGAGCTTCCTTAGCTCGCTGC	0.527000													35	224					0	0	0.006999	0	0
OGG1	4968	broad.mit.edu	37	3	9792684	9792684	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr3:9792684A>G	ENST00000302036.7	+	2	536	c.193A>G	c.(193-195)Aca>Gca	p.T65A	OGG1_ENST00000449570.2_Missense_Mutation_p.T65A|OGG1_ENST00000349503.5_Missense_Mutation_p.T65A|OGG1_ENST00000344629.7_Missense_Mutation_p.T65A|OGG1_ENST00000339511.5_Missense_Mutation_p.T65A|OGG1_ENST00000302003.7_Missense_Mutation_p.T65A|OGG1_ENST00000436092.1_3'UTR|OGG1_ENST00000302008.8_Missense_Mutation_p.T65A|OGG1_ENST00000383826.5_Missense_Mutation_p.T65A	NM_016821.2	NP_058214.1	O15527	OGG1_HUMAN	8-oxoguanine DNA glycosylase	65					depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation	mitochondrion|nuclear matrix|nuclear speck	damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding	p.T65A(4)		kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8	Medulloblastoma(99;0.227)					TCAAGTATGGACACTGACTCA	0.572000								Base excision repair (BER), DNA glycosylases					4	38					0	0	0.000602	0	0
MAMLD1	10046	broad.mit.edu	37	X	149638523	149638523	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chrX:149638523G>C	ENST00000370401.2	+	4	988	c.678G>C	c.(676-678)caG>caC	p.Q226H	MAMLD1_ENST00000262858.5_Missense_Mutation_p.Q226H|MAMLD1_ENST00000426613.2_Missense_Mutation_p.Q201H|MAMLD1_ENST00000432680.2_Missense_Mutation_p.Q201H			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	226					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.Q201H(1)|p.Q226H(1)|p.Q153H(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					CTTCGGTTCAGATGTCACACT	0.517000													33	447					0	0	0.003271	0	0
FASTKD3	79072	broad.mit.edu	37	5	7866922	7866922	+	Silent	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr5:7866922G>T	ENST00000264669.5	-	2	1411	c.1275C>A	c.(1273-1275)gcC>gcA	p.A425A	FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000502509.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	425					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	p.A425A(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ATAAAGCAGAGGCATTTGGTG	0.348000													11	139					3.07112e-06	3.97893e-06	0.010729	1	0
CTNND1	1500	broad.mit.edu	37	11	57563083	57563083	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr11:57563083G>C	ENST00000524630.1	+	5	815	c.302G>C	c.(301-303)aGg>aCg	p.R101T	CTNND1_ENST00000531014.1_Intron|CTNND1_ENST00000530748.1_Missense_Mutation_p.R47T|CTNND1_ENST00000532844.1_Missense_Mutation_p.R47T|CTNND1_ENST00000532463.1_5'UTR|CTNND1_ENST00000533667.1_Intron|CTNND1_ENST00000361796.4_Missense_Mutation_p.R101T|CTNND1_ENST00000532245.1_5'UTR|CTNND1_ENST00000529526.1_Missense_Mutation_p.R47T|CTNND1_ENST00000532787.1_5'UTR|CTNND1_ENST00000426142.2_5'UTR|CTNND1_ENST00000529919.1_Missense_Mutation_p.R101T|CTNND1_ENST00000526357.1_Missense_Mutation_p.R47T|CTNND1_ENST00000358694.6_Missense_Mutation_p.R101T|CTNND1_ENST00000529873.1_Missense_Mutation_p.R47T|CTNND1_ENST00000532649.1_Missense_Mutation_p.R47T|CTNND1_ENST00000415361.2_5'UTR|CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000534579.1_Missense_Mutation_p.R47T|CTNND1_ENST00000399039.4_Missense_Mutation_p.R101T|CTNND1_ENST00000360682.6_Missense_Mutation_p.R101T|CTNND1_ENST00000530094.1_5'UTR|CTNND1_ENST00000399050.4_Missense_Mutation_p.R101T|CTNND1_ENST00000528621.1_Missense_Mutation_p.R47T|CTNND1_ENST00000526938.1_Missense_Mutation_p.R101T|CTNND1_ENST00000527467.1_Intron|CTNND1_ENST00000528232.1_5'UTR|CTNND1_ENST00000361391.6_Missense_Mutation_p.R101T|CTNND1_ENST00000529986.1_5'UTR|CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000361332.4_Missense_Mutation_p.R101T|CTNND1_ENST00000428599.2_Missense_Mutation_p.R101T			O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	101					adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding	p.R101T(2)		breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				ACCATCCCCAGGATGCAGGAG	0.473000													3	40					0	0	0.004672	0	0
HSPA1L	3305	broad.mit.edu	37	6	31777930	31777930	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr6:31777930G>A	ENST00000375654.4	-	2	2009	c.1820C>T	c.(1819-1821)cCt>cTt	p.P607L	HSPA1L_ENST00000417199.3_Missense_Mutation_p.P607L	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	607					response to unfolded protein		ATP binding	p.P607L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TGTGATGATAGGGTTACACAT	0.493000													8	144					0	0	0.003080	0	0
MYO1D	4642	broad.mit.edu	37	17	31075963	31075963	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr17:31075963C>A	ENST00000318217.5	-	12	1833	c.1529G>T	c.(1528-1530)gGc>gTc	p.G510V	MYO1D_ENST00000579584.1_Missense_Mutation_p.G510V|MYO1D_ENST00000584232.1_5'UTR|MYO1D_ENST00000394649.4_Missense_Mutation_p.G422V	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	510	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding	p.G510V(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			CACTACATCGCCTGCATAATG	0.368000													21	142					3.08376e-08	4.32146e-08	0.003330	1	0
KIF16B	55614	broad.mit.edu	37	20	16360585	16360585	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr20:16360585G>T	ENST00000354981.2	-	19	2219	c.2062C>A	c.(2062-2064)Cag>Aag	p.Q688K	KIF16B_ENST00000355755.3_Missense_Mutation_p.Q688K|KIF16B_ENST00000408042.1_Missense_Mutation_p.Q688K|KIF16B_ENST00000378003.2_5'UTR	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	688	Glu-rich.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	p.Q688K(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TCGATTTCCTGCTGTTCCCTC	0.488000													27	301					8.24728e-16	1.4646e-15	0.004656	1	0
BTAF1	9044	broad.mit.edu	37	10	93749274	93749274	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr10:93749274C>G	ENST00000265990.6	+	20	3099	c.2791C>G	c.(2791-2793)Cca>Gca	p.P931A		NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	931					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	p.P931A(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TTGTGTGGACCCATATCTAAC	0.403000													9	98					0	0	0.006214	0	0
LMCD1	29995	broad.mit.edu	37	3	8590464	8590464	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr3:8590464G>A	ENST00000157600.3	+	4	830	c.598G>A	c.(598-600)Gcc>Acc	p.A200T	LMCD1_ENST00000454244.1_Missense_Mutation_p.A127T|LMCD1_ENST00000397386.3_Missense_Mutation_p.A88T|LMCD1-AS1_ENST00000439407.1_RNA|LMCD1_ENST00000535732.1_Missense_Mutation_p.A200T	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	200	PET.				positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding	p.A200T(1)		breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		GGGAGAAGTGGCCCTCCCGGG	0.592000													23	127					0	0	0.004656	0	0
SLITRK4	139065	broad.mit.edu	37	X	142717965	142717965	+	Silent	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chrX:142717965G>T	ENST00000381779.4	-	2	1185	c.960C>A	c.(958-960)gcC>gcA	p.A320A	SLITRK4_ENST00000356928.1_Silent_p.A320A|SLITRK4_ENST00000338017.4_Silent_p.A320A	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	320						integral to membrane		p.A320A(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					GGTTGGAGAGGGCTTTGCCTG	0.468000													34	206					8.73648e-17	1.58565e-16	0.004289	1	0
ZCCHC16	340595	broad.mit.edu	37	X	111698312	111698312	+	Missense_Mutation	SNP	G	G	C	rs149089921		TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chrX:111698312G>C	ENST00000340433.2	+	1	586	c.356G>C	c.(355-357)aGt>aCt	p.S119T		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	119							nucleic acid binding|zinc ion binding	p.S119T(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						CCTGACAAGAGTACCTTACTG	0.383000													18	184					0	0	0.004990	0	0
TBR1	10716	broad.mit.edu	37	2	162274750	162274750	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr2:162274750G>A	ENST00000389554.3	+	3	1203	c.886G>A	c.(886-888)Ggg>Agg	p.G296R	TBR1_ENST00000410035.1_Missense_Mutation_p.G9R	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	296						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.G296R(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						CCCCAACACTGGGGCTCACTG	0.478000													20	77					0	0	0.010504	0	0
TRDN	10345	broad.mit.edu	37	6	123892215	123892215	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr6:123892215C>T	ENST00000334268.4	-	2	402	c.85G>A	c.(85-87)Gga>Aga	p.G29R	TRDN_ENST00000546248.1_Missense_Mutation_p.G29R|TRDN_ENST00000542443.1_Missense_Mutation_p.G29R|TRDN_ENST00000398178.3_Missense_Mutation_p.G29R			Q13061	TRDN_HUMAN	triadin	29					muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding	p.G29R(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		AGCACTTTTCCGGGGGATTTG	0.453000													8	64					0	0	0.008291	0	0
TET1	80312	broad.mit.edu	37	10	70404986	70404986	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr10:70404986T>G	ENST00000373644.4	+	4	2709	c.2500T>G	c.(2500-2502)Tcc>Gcc	p.S834A		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	834					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	p.S834A(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TAACTGCAGTTCCATTCCACA	0.393000													20	299					0	0	0.012319	0	0
CNTN3	5067	broad.mit.edu	37	3	74315728	74315728	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr3:74315728G>T	ENST00000263665.6	-	21	2917	c.2890C>A	c.(2890-2892)Ctg>Atg	p.L964M	CNTN3_ENST00000477856.1_5'UTR	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	964	Fibronectin type-III 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.L964M(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TTAATGGGCAGCACAAGTTCA	0.393000													20	189					1.28384e-07	1.72294e-07	0.012319	1	0
TSHZ1	10194	broad.mit.edu	37	18	72998565	72998565	+	Silent	SNP	C	C	G			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr18:72998565C>G	ENST00000322038.5	+	2	1652	c.1068C>G	c.(1066-1068)ggC>ggG	p.G356G	TSHZ1_ENST00000580243.1_Silent_p.G401G	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	401						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G356G(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		ACCAGAATGGCGCCAGCTACA	0.612000													5	53					0	0	0.001984	0	0
HYDIN	54768	broad.mit.edu	37	16	71019123	71019123	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr16:71019123G>T	ENST00000393567.2	-	28	4447	c.4297C>A	c.(4297-4299)Ctt>Att	p.L1433I		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1433								p.L1384I(1)|p.L1432I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CCAGGGAGAAGGTTGTCTGGA	0.517000													7	30					0.00621372	0.00668421	0.006214	1	0
OR51V1	283111	broad.mit.edu	37	11	5221508	5221508	+	Silent	SNP	A	A	G			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr11:5221508A>G	ENST00000321255.1	-	1	422	c.423T>C	c.(421-423)taT>taC	p.Y141Y		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y141Y(1)		endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGATGGAGGAATAACGTAGTG	0.418000													7	76					0	0	0.004482	0	0
TMEFF1	8577	broad.mit.edu	37	9	103279049	103279049	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr9:103279049G>T	ENST00000374879.4	+	5	988	c.556G>T	c.(556-558)Gtt>Ttt	p.V186F	TMEFF1_ENST00000334943.6_Missense_Mutation_p.V147F|MSANTD3-TMEFF1_ENST00000502978.1_Missense_Mutation_p.C149F	NM_003692.4	NP_003683.2			transmembrane protein with EGF-like and two follistatin-like domains 1									p.V186F(1)		NS(1)|kidney(1)|large_intestine(7)|lung(9)|stomach(1)	19		Acute lymphoblastic leukemia(62;0.0452)				TGCAGAAAATGTTGGGTGAGT	0.398000													11	64					1.5842e-08	2.25066e-08	0.001855	1	0
CDK5RAP1	51654	broad.mit.edu	37	20	31973519	31973519	+	Silent	SNP	C	C	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr20:31973519C>A	ENST00000357886.4	-	7	966	c.813G>T	c.(811-813)cgG>cgT	p.R271R	CDK5RAP1_ENST00000544843.1_Silent_p.R271R|CDK5RAP1_ENST00000339269.5_Silent_p.R271R|CDK5RAP1_ENST00000346416.2_Silent_p.R271R|CDK5RAP1_ENST00000473997.1_5'UTR|CDK5RAP1_ENST00000452723.3_Silent_p.R181R			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	271					brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity	p.R271R(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						TCTCCCTGCCCCGGGTGAAAG	0.493000													15	119					3.62473e-10	5.53107e-10	0.012319	1	0
OR8I2	120586	broad.mit.edu	37	11	55860901	55860901	+	Silent	SNP	T	T	C			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr11:55860901T>C	ENST00000302124.2	+	1	149	c.118T>C	c.(118-120)Ttg>Ctg	p.L40L	OR8I2_ENST00000560768.1_Silent_p.L40L			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L40L(1)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					ATTCACTGTTTTGGGAAACCT	0.378000													34	201					0	0	0.004289	0	0
GATAD1	57798	broad.mit.edu	37	7	92080020	92080020	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr7:92080020C>G	ENST00000287957.3	+	3	658	c.381C>G	c.(379-381)atC>atG	p.I127M		NM_021167.4	NP_066990.3	Q8WUU5	GATD1_HUMAN	GATA zinc finger domain containing 1	127							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.I127M(1)|p.?(1)		endometrium(1)|kidney(2)|lung(3)	6	all_cancers(62;1.63e-10)|all_epithelial(64;8.33e-10)|Breast(17;0.00311)|all_lung(186;0.0498)|Lung NSC(181;0.0676)		STAD - Stomach adenocarcinoma(171;4.51e-05)|GBM - Glioblastoma multiforme(5;8.83e-05)|all cancers(6;0.000136)|Lung(22;0.123)|Epithelial(20;0.179)|LUSC - Lung squamous cell carcinoma(200;0.225)			CATAGCCCATCAAAGCTCCTG	0.398000													13	96					0	0	0.002450	0	0
MYH9	4627	broad.mit.edu	37	22	36708162	36708162	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr22:36708162G>T	ENST00000216181.5	-	14	1890	c.1660C>A	c.(1660-1662)Ccc>Acc	p.P554T		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	554	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	p.P554T(1)		NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TGGAACTTGGGGTGGGTGCCC	0.612000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				10	128					0.000442599	0.000502344	0.006214	1	0
DST	667	broad.mit.edu	37	6	56480626	56480626	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr6:56480626T>C	ENST00000370765.6	-	24	7746	c.7639A>G	c.(7639-7641)Ata>Gta	p.I2547V	DST_ENST00000446842.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000361203.3_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1843					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	p.I2547V(2)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCCTTATTTATAATATTTGCA	0.433000													18	147					0	0	0.006122	0	0
POTEG	404785	broad.mit.edu	37	14	19553724	19553724	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr14:19553724G>T	ENST00000409832.3	+	1	360	c.308G>T	c.(307-309)tGc>tTc	p.C103F		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	103								p.C103F(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AAGTGGTGCTGCCACTGCTTC	0.617000													46	525					2.29192e-23	4.41247e-23	0.003610	1	0
MYH11	4629	broad.mit.edu	37	16	15839064	15839064	+	Silent	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr16:15839064G>T	ENST00000338282.6	-	20	2548	c.2442C>A	c.(2440-2442)acC>acA	p.T814T	MYH11_ENST00000576790.1_Silent_p.T814T|MYH11_ENST00000300036.5_Silent_p.T814T|MYH11_ENST00000452625.2_Silent_p.T821T|MYH11_ENST00000396324.3_Silent_p.T821T	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	814	IQ.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	p.T814T(1)|p.T821T(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CCTTCATGGCGGTCAGCTGCT	0.617000			T	CBFB	AML								15	64					3.45872e-05	4.26644e-05	0.004007	1	0
SDCCAG3	10807	broad.mit.edu	37	9	139304594	139304594	+	Silent	SNP	C	C	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr9:139304594C>A	ENST00000298537.7	-	2	379	c.168G>T	c.(166-168)ccG>ccT	p.P56P	SDCCAG3_ENST00000357365.3_Silent_p.P56P|SDCCAG3_ENST00000371725.3_Intron	NM_006643.3	NP_006634.3	Q96C92	SDCG3_HUMAN	serologically defined colon cancer antigen 3	56						cytoplasm		p.P56P(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		ACATAAAGGCCGGCCGAATGC	0.662000													6	22					0.00448238	0.00487267	0.004482	1	0
DDX26B	203522	broad.mit.edu	37	X	134681099	134681099	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chrX:134681099T>A	ENST00000370752.4	+	6	985	c.651T>A	c.(649-651)aaT>aaA	p.N217K	DDX26B_ENST00000493637.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	217	VWFA.							p.N217K(2)		large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					GAATGTTGAATCAATGTTTAG	0.328000													32	190					0	0	0.002836	0	0
SLC44A5	204962	broad.mit.edu	37	1	75708683	75708683	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr1:75708683T>A	ENST00000370855.5	-	8	472	c.359A>T	c.(358-360)aAg>aTg	p.K120M	SLC44A5_ENST00000370859.3_Missense_Mutation_p.K120M|SLC44A5_ENST00000469525.1_5'UTR|SLC44A5_ENST00000535611.1_De_novo_Start_InFrame	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	120						integral to membrane|plasma membrane	choline transmembrane transporter activity	p.K120M(1)		kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						TTCTGGGCACTTGGAGACACA	0.398000													24	86					0	0	0.002299	0	0
USP46	64854	broad.mit.edu	37	4	53468216	53468216	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr4:53468216T>A	ENST00000441222.2	-	7	911	c.727A>T	c.(727-729)Agg>Tgg	p.R243W	USP46_ENST00000451218.2_Missense_Mutation_p.R216W|USP46_ENST00000508499.1_Missense_Mutation_p.R236W	NM_022832.3	NP_073743.2	P62068	UBP46_HUMAN	ubiquitin specific peptidase 46	243					behavior|protein deubiquitination|regulation of synaptic transmission, GABAergic|ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.R243W(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12			LUSC - Lung squamous cell carcinoma(32;0.0295)			TTTTTTACCCTCATCCTAAGA	0.448000													10	82					0	0	0.006214	0	0
PPP1R1A	5502	broad.mit.edu	37	12	54975870	54975870	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr12:54975870C>A	ENST00000257905.8	-	5	463	c.293G>T	c.(292-294)gGa>gTa	p.G98V	PPP1R1A_ENST00000547431.1_Intron	NM_006741.3	NP_006732.3	Q13522	PPR1A_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1A	98					glycogen metabolic process|signal transduction		protein binding|protein serine/threonine phosphatase inhibitor activity	p.G98V(2)		lung(2)	2						AGGTTCCTCTCCTTGCTGCTG	0.602000													20	57					2.94398e-08	4.15384e-08	0.007413	1	0
MOAP1	64112	broad.mit.edu	37	14	93649642	93649642	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr14:93649642C>G	ENST00000556883.1	-	2	1430	c.946G>C	c.(946-948)Gat>Cat	p.D316H	MOAP1_ENST00000298894.4_Missense_Mutation_p.D316H			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	316					activation of caspase activity|apoptotic nuclear change	cytoplasm	protein homodimerization activity	p.D316H(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		gctgggccatcctctggcaga	0.502000													56	133					0	0	0.003610	0	0
TMTC2	160335	broad.mit.edu	37	12	83358817	83358817	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr12:83358817A>T	ENST00000549919.1	+	6	3400	c.1595A>T	c.(1594-1596)cAg>cTg	p.Q532L	TMTC2_ENST00000548305.1_Missense_Mutation_p.Q538L|TMTC2_ENST00000321196.3_Missense_Mutation_p.Q538L			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	538						endoplasmic reticulum|integral to membrane	binding	p.Q538L(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						CTACTTCTCCAGGAGAACAGC	0.333000													26	57					0	0	0.006320	0	0
NPAT	4863	broad.mit.edu	37	11	108057265	108057265	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr11:108057265C>T	ENST00000278612.8	-	8	775	c.670G>A	c.(670-672)Ggc>Agc	p.G224S		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	224	Interaction with MIZF.				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	p.G224S(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		GAATGAGGGCCAGACAAAGTG	0.323000													8	92					0	0	0.008291	0	0
TTN	7273	broad.mit.edu	37	2	179397726	179397726	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr2:179397726G>T	ENST00000589042.1	-	358	103840	c.103616C>A	c.(103615-103617)cCt>cAt	p.P34539H	TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P25474H|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P31971H|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P32898H|TTN_ENST00000359218.5_Missense_Mutation_p.P25599H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P25666H|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592182.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32898							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P31971H(1)|p.P25599H(1)|p.P31969H(1)|p.P25666H(1)|p.P25474H(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TACATCATAAGGCATCCGGAG	0.448000													55	275					1.83081e-24	3.54128e-24	0.003610	1	0
ALX1	8092	broad.mit.edu	37	12	85695135	85695135	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr12:85695135G>T	ENST00000316824.3	+	4	1018	c.863G>T	c.(862-864)gGg>gTg	p.G288V		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	288					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.G288V(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		CTTCTTACTGGGGCAACCAAT	0.483000													11	106					2.80697e-09	4.17499e-09	0.010729	1	0
PGK2	5232	broad.mit.edu	37	6	49754747	49754747	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr6:49754747C>T	ENST00000304801.3	-	1	306	c.154G>A	c.(154-156)Gac>Aac	p.D52N		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	52					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	p.D52N(1)		autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					GCTCCATTGTCCAGGCAGTAC	0.463000													66	158					0	0	0.003610	0	0
GALNTL6	442117	broad.mit.edu	37	4	173269702	173269702	+	Silent	SNP	C	C	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr4:173269702C>T	ENST00000506823.1	+	5	1072	c.415C>T	c.(415-417)Ctg>Ttg	p.L139L	GALNTL6_ENST00000508122.1_Silent_p.L122L|GALNTL6_ENST00000457021.1_3'UTR	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	139	Catalytic subdomain A.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.L139L(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						TCTGGAAAGGCTGCCAAACAC	0.398000													20	106					0	0	0.004656	0	0
ATP13A4	84239	broad.mit.edu	37	3	193132540	193132540	+	Splice_Site	SNP	C	C	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr3:193132540C>A	ENST00000342695.4	-	26	3165		c.e26-1		ATP13A4_ENST00000392443.3_Splice_Site|ATP13A4_ENST00000400270.2_Splice_Site	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4						ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.?(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TTCAGATTCACTATAAAATAA	0.398000													9	76					9.70103e-10	1.46404e-09	0.008291	1	0
ANK2	287	broad.mit.edu	37	4	114278877	114278877	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr4:114278877A>G	ENST00000357077.4	+	38	9156	c.9103A>G	c.(9103-9105)Atc>Gtc	p.I3035V	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.I3002V	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3002					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.I3035V(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CAAAGTCATCATCACAAAAAC	0.413000													24	159					0	0	0.002780	0	0
OR51F2	119694	broad.mit.edu	37	11	4843600	4843600	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr11:4843600A>T	ENST00000322110.5	+	1	1050	c.985A>T	c.(985-987)Aat>Tat	p.N329Y	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	329					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N329Y(1)		breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTCCAAATCTAATCATCAGCT	0.383000													13	56					0	0	0.001368	0	0
NKAPL	222698	broad.mit.edu	37	6	28227314	28227314	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr6:28227314G>T	ENST00000343684.3	+	1	217	c.165G>T	c.(163-165)tgG>tgT	p.W55C		NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	55								p.W55C(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						GGCCTCCTTGGAGTGAGTTGG	0.652000													16	117					1.56452e-12	2.57834e-12	0.007413	1	0
LRRC41	10489	broad.mit.edu	37	1	46746874	46746874	+	Missense_Mutation	SNP	G	G	T	rs140475848		TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr1:46746874G>T	ENST00000343304.6	-	5	1964	c.1679C>A	c.(1678-1680)cCa>cAa	p.P560Q	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	560								p.P560Q(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CCGCTGGCTTGGGTGGTCAAC	0.582000													6	73					5.4927e-09	7.99644e-09	0.004482	1	0
AGPAT6	137964	broad.mit.edu	37	8	41476485	41476485	+	Silent	SNP	G	G	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr8:41476485G>A	ENST00000396987.3	+	12	2178	c.1251G>A	c.(1249-1251)gtG>gtA	p.V417V	RP11-360L9.8_ENST00000581909.1_RNA	NM_178819.3	NP_848934.1	Q86UL3	GPAT4_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 6	417					acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	glycerol-3-phosphate O-acyltransferase activity	p.V417V(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)			GAGGACTTGTGGACCTGCTGT	0.498000													12	58					0	0	0.010729	0	0
DSPP	1834	broad.mit.edu	37	4	88535090	88535090	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr4:88535090C>A	ENST00000399271.1	+	5	1396	c.1276C>A	c.(1276-1278)Cct>Act	p.P426T	DSPP_ENST00000282478.7_Missense_Mutation_p.P426T|RP11-742B18.1_ENST00000506480.1_RNA	NM_014208.3	NP_055023.2	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	426					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent	p.P426T(1)		breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		CATAGAAGGACCTGGCCAAAA	0.413000													21	72					8.10497e-08	1.10938e-07	0.010504	1	0
IL25	64806	broad.mit.edu	37	14	23842381	23842381	+	Silent	SNP	A	A	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr14:23842381A>T	ENST00000329715.2	+	1	312	c.54A>T	c.(52-54)ctA>ctT	p.L18L	IL25_ENST00000397242.2_Intron	NM_022789.3	NP_073626.1	Q9H293	IL25_HUMAN	interleukin 25	18					inflammatory response	extracellular space|membrane	cytokine activity|interleukin-17E receptor binding	p.L18L(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)		GCCTTTTCCTACAGGTGGTTG	0.587000													34	107					0	0	0.003271	0	0
MPP1	4354	broad.mit.edu	37	X	154007556	154007556	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chrX:154007556A>T	ENST00000413259.3	-	13	1599	c.1207T>A	c.(1207-1209)Tca>Aca	p.S403T	MPP1_ENST00000369534.3_Missense_Mutation_p.S433T|MPP1_ENST00000393531.1_Missense_Mutation_p.S413T	NM_001166462.1	NP_001159934.1	Q00013	EM55_HUMAN	membrane protein, palmitoylated 1, 55kDa	433	Guanylate kinase-like.|Interaction with MPP5.				regulation of neutrophil chemotaxis|signal transduction	integral to plasma membrane|membrane fraction|stereocilium	guanylate kinase activity|protein binding	p.S433T(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TTGACCAGTGAGAGGTCAAAG	0.507000													18	135					0	0	0.002299	0	0
GPI	2821	broad.mit.edu	37	19	34859562	34859562	+	Missense_Mutation	SNP	G	G	T	rs11548996		TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr19:34859562G>T	ENST00000415930.3	+	5	644	c.474G>T	c.(472-474)atG>atT	p.M158I	GPI_ENST00000356487.5_Missense_Mutation_p.M119I|GPI_ENST00000586425.1_Missense_Mutation_p.M119I	NM_001184722.1	NP_001171651.1	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	119				G -> V (in Ref. 1; AAA36368).	angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity	p.M119I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					AGGATGTGATGCCAGAGGTCA	0.552000													13	81					9.05144e-12	1.45672e-11	0.001855	1	0
HPS4	89781	broad.mit.edu	37	22	26868863	26868863	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr22:26868863G>A	ENST00000398145.2	-	5	935	c.319C>T	c.(319-321)Cgg>Tgg	p.R107W	HPS4_ENST00000398141.1_Missense_Mutation_p.R102W|HPS4_ENST00000402105.3_Missense_Mutation_p.R102W|HPS4_ENST00000336873.5_Missense_Mutation_p.R107W	NM_022081.4	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	107					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity	p.R102W(1)|p.R107W(1)		breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						TCCAGAAACCGCTTGCAGCTG	0.478000									Hermansky-Pudlak syndrome				10	155					0	0	0.006214	0	0
ILDR2	387597	broad.mit.edu	37	1	166905836	166905836	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr1:166905836G>T	ENST00000271417.3	-	5	750	c.695C>A	c.(694-696)cCt>cAt	p.P232H	ILDR2_ENST00000469934.2_Missense_Mutation_p.P232H|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000528703.1_Missense_Mutation_p.P232H|ILDR2_ENST00000525740.1_Intron|ILDR2_ENST00000529071.1_Missense_Mutation_p.P213H|ILDR2_ENST00000526687.1_Intron	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	232						integral to membrane		p.P232H(1)		NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						ACAGGCTTGAGGGCAGCAGCA	0.602000													4	41					0.000442599	0.000502344	0.006214	1	0
PASD1	139135	broad.mit.edu	37	X	150841005	150841005	+	Silent	SNP	C	C	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chrX:150841005C>A	ENST00000370357.4	+	14	2033	c.1788C>A	c.(1786-1788)ccC>ccA	p.P596P		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	596						nucleus	signal transducer activity	p.P596P(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					TATCTGTGCCCCTCTGCAATC	0.502000													13	121					0.00136819	0.00152763	0.001368	1	0
SLC27A1	376497	broad.mit.edu	37	19	17599848	17599848	+	Silent	SNP	C	C	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr19:17599848C>T	ENST00000252595.7	+	6	1015	c.918C>T	c.(916-918)atC>atT	p.I306I	CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000442725.1_Silent_p.I306I|SLC27A1_ENST00000598424.1_Silent_p.I127I	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	306	Sufficient for oligomerization (By similarity).				cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding	p.I306I(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						AGTGTCTCATCTATGGGCTGA	0.612000													8	53					0	0	0.004482	0	0
ZNF831	128611	broad.mit.edu	37	20	57766620	57766620	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr20:57766620G>T	ENST00000371030.2	+	1	546	c.546G>T	c.(544-546)aaG>aaT	p.K182N		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	182						intracellular	nucleic acid binding|zinc ion binding	p.K182N(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TCGCCTTTAAGACCCAGAGCA	0.647000													97	166					9.53958e-58	1.92662e-57	0.003610	1	0
SIRPA	140885	broad.mit.edu	37	20	1896081	1896081	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr20:1896081G>A	ENST00000358771.4	+	2	568	c.416G>A	c.(415-417)gGc>gAc	p.G139D	SIRPA_ENST00000356025.3_Missense_Mutation_p.G139D|SIRPA_ENST00000400068.3_Missense_Mutation_p.G139D	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	139					blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding	p.G139D(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		TCTGGAGCAGGCACTGAGCTG	0.532000													23	134					0	0	0.003330	0	0
DCLK3	85443	broad.mit.edu	37	3	36779774	36779774	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr3:36779774C>T	ENST00000416516.2	-	2	867	c.377G>A	c.(376-378)gGg>gAg	p.G126E		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	126						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	p.G126E(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						AATCTCCACCCCAAGATGCTT	0.567000													32	266					0	0	0.002836	0	0
CPLX3	594855	broad.mit.edu	37	15	75119191	75119191	+	Silent	SNP	G	G	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr15:75119191G>A	ENST00000395018.4	+	1	304	c.147G>A	c.(145-147)aaG>aaA	p.K49K	RP11-414J4.2_ENST00000564823.1_RNA	NM_001030005.2	NP_001025176.1	Q8WVH0	CPLX3_HUMAN	complexin 3	49						cell junction|synapse	syntaxin binding	p.K49K(1)		large_intestine(2)|lung(2)	4						AGTATCAGAAGCAACTCGTGG	0.637000													6	44					0	0	0.001984	0	0
SPATC1	375686	broad.mit.edu	37	8	145095635	145095635	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr8:145095635T>A	ENST00000377470.3	+	3	1035	c.933T>A	c.(931-933)agT>agA	p.S311R	SPATC1_ENST00000447830.2_Missense_Mutation_p.S311R	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	311								p.S311R(1)|p.S220R(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCAGCCCAGTGCCGCCCAGG	0.677000													9	42					0	0	0.006214	0	0
OR2T8	343172	broad.mit.edu	37	1	248084558	248084558	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr1:248084558C>G	ENST00000319968.4	+	1	239	c.239C>G	c.(238-240)gCg>gGg	p.A80G		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A80G(1)|p.A80V(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCCAAAATGGCGGCTGACTAC	0.577000													4	171					0	0	0.003080	0	0
OR5AN1	390195	broad.mit.edu	37	11	59132051	59132051	+	Silent	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr11:59132051G>T	ENST00000313940.2	+	1	167	c.120G>T	c.(118-120)ctG>ctT	p.L40L		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L40L(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						TTACATCTCTGGCCTGGAACC	0.418000													19	270					5.35267e-07	7.11387e-07	0.007413	1	0
CHDC2	286464	broad.mit.edu	37	X	36122683	36122683	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chrX:36122683C>A	ENST00000378660.1	+	8	1108	c.920C>A	c.(919-921)aCa>aAa	p.T307K	CHDC2_ENST00000313548.4_Missense_Mutation_p.T307K					calponin homology domain containing 2									p.T307K(1)									GTGCAAAATACACCAAAAGTC	0.363000													7	124					5.18039e-06	6.58741e-06	0.003080	1	0
RSPO1	284654	broad.mit.edu	37	1	38095323	38095323	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr1:38095323C>A	ENST00000356545.2	-	4	798	c.11G>T	c.(10-12)gGg>gTg	p.G4V	RSPO1_ENST00000401068.1_Missense_Mutation_p.G4V|RSPO1_ENST00000401070.1_Missense_Mutation_p.G4V|RSPO1_ENST00000401069.1_Missense_Mutation_p.G4V|RSPO1_ENST00000401071.2_Missense_Mutation_p.G4V|RSPO1_ENST00000373059.1_Intron	NM_001038633.3	NP_001033722.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	4					positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding	p.G4V(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CACACACAGCCCAAGCCGCAT	0.642000													7	28					0.000673444	0.000756019	0.008291	1	0
ATP1A3	478	broad.mit.edu	37	19	42480646	42480646	+	Silent	SNP	C	C	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr19:42480646C>T	ENST00000545399.1	-	15	2208	c.2055G>A	c.(2053-2055)ctG>ctA	p.L685L	ATP1A3_ENST00000602133.1_Silent_p.L642L|ATP1A3_ENST00000543770.1_Silent_p.L683L|ATP1A3_ENST00000302102.5_Silent_p.L672L	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	672					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.L672L(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						TGTGATTCTGCAGGATCTCGT	0.612000													14	77					0	0	0.004007	0	0
LRTM1	57408	broad.mit.edu	37	3	54961995	54961995	+	Translation_Start_Site	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr3:54961995G>T	ENST00000273286.5	-	0	106				CACNA2D3_ENST00000288197.5_Intron|CACNA2D3_ENST00000415676.2_Intron|LRTM1_ENST00000493075.1_Intron|CACNA2D3_ENST00000474759.1_Intron|CACNA2D3_ENST00000490478.1_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1							integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		TTAATGTGCAGAGCAACACAC	0.478000													7	144					4.84862e-15	8.50055e-15	0.010729	1	0
IL5RA	3568	broad.mit.edu	37	3	3136995	3136995	+	Silent	SNP	A	A	G			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr3:3136995A>G	ENST00000446632.2	-	8	1417	c.843T>C	c.(841-843)aaT>aaC	p.N281N	IL5RA_ENST00000430514.2_Silent_p.N281N|IL5RA_ENST00000383846.1_Silent_p.N281N|IL5RA_ENST00000418488.2_Intron|IL5RA_ENST00000456302.1_Silent_p.N281N|IL5RA_ENST00000256452.3_Silent_p.N281N|IL5RA_ENST00000445864.2_Intron|IL5RA_ENST00000438560.1_Silent_p.N281N|IL5RA_ENST00000311981.8_Silent_p.N281N	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	281					cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity	p.N281N(1)		cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		GCAAATATCCATTCCTTGTAT	0.323000													8	41					0	0	0.001855	0	0
OR52A5	390054	broad.mit.edu	37	11	5153561	5153561	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr11:5153561C>A	ENST00000307388.1	-	1	311	c.312G>T	c.(310-312)tgG>tgT	p.W104C		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W104C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		AGTGAATAAGCCACATTTGAA	0.448000													11	35					0.010729	0.0114517	0.010729	1	0
HIRA	7290	broad.mit.edu	37	22	19365417	19365417	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr22:19365417C>G	ENST00000263208.5	-	14	1844	c.1588G>C	c.(1588-1590)Gca>Cca	p.A530P	HIRA_ENST00000546308.1_Missense_Mutation_p.A486P|HIRA_ENST00000541063.1_Missense_Mutation_p.A486P|HIRA_ENST00000340170.4_Missense_Mutation_p.A530P	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	530	Interaction with CCNA1.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.A530P(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					GAATCGCCTGCAGGTCTGGCA	0.542000													7	136					0	0	0.001368	0	0
CPN2	1370	broad.mit.edu	37	3	194062704	194062704	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr3:194062704A>T	ENST00000323830.3	-	2	817	c.728T>A	c.(727-729)cTa>cAa	p.L243Q	CPN2_ENST00000429275.1_Missense_Mutation_p.L243Q	NM_001080513.2	NP_001073982.2	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	243					protein stabilization	extracellular region	enzyme regulator activity	p.L243Q(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		CAGCCTCTCTAGGCAGAAGAG	0.582000													5	42					0	0	0.001368	0	0
CNOT7	29883	broad.mit.edu	37	8	17090042	17090042	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr8:17090042C>A	ENST00000361272.4	-	6	921	c.623G>T	c.(622-624)gGa>gTa	p.G208V	CNOT7_ENST00000523917.1_Missense_Mutation_p.G208V	NM_013354.5	NP_037486.2	Q9UIV1	CNOT7_HUMAN	CCR4-NOT transcription complex, subunit 7	208					carbohydrate metabolic process|nuclear-transcribed mRNA poly(A) tail shortening	CCR4-NOT complex|cytoplasmic mRNA processing body|cytosol	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.G208V(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)	11				Colorectal(111;0.0523)|COAD - Colon adenocarcinoma(73;0.209)		CTCCTGTAATCCACCCTAGAA	0.368000													15	159					6.72482e-11	1.05749e-10	0.003163	1	0
KIF27	55582	broad.mit.edu	37	9	86503486	86503486	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr9:86503486A>C	ENST00000297814.2	-	8	2144	c.2001T>G	c.(1999-2001)atT>atG	p.I667M	KIF27_ENST00000334204.2_Missense_Mutation_p.I667M|KIF27_ENST00000413982.1_Missense_Mutation_p.I667M|KIF27_ENST00000376347.1_Missense_Mutation_p.I58M	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	667					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.I667M(1)		breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						CTGGCTTCTGAATCCATGAAC	0.348000													6	60					0	0	0.001984	0	0
MAPK7	5598	broad.mit.edu	37	17	19285382	19285382	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr17:19285382C>G	ENST00000308406.5	+	5	2152	c.1766C>G	c.(1765-1767)cCt>cGt	p.P589R	MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000395602.4_Missense_Mutation_p.P589R|MAPK7_ENST00000395604.3_Missense_Mutation_p.P589R|MAPK7_ENST00000299612.7_Missense_Mutation_p.P450R	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	589	May not be required for kinase activity; required to stimulate MEF2C activity (By similarity).|Pro-rich.				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding	p.P589R(1)		autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					gtgccggcccctgccccagcg	0.662000													5	12					0	0	0.001984	0	0
NSD1	64324	broad.mit.edu	37	5	176721186	176721186	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr5:176721186T>G	ENST00000439151.2	+	23	6862	c.6817T>G	c.(6817-6819)Tgt>Ggt	p.C2273G	NSD1_ENST00000361032.4_Missense_Mutation_p.C2170G|NSD1_ENST00000354179.4_Missense_Mutation_p.C2004G|NSD1_ENST00000347982.4_Missense_Mutation_p.C2004G	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2273	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	p.C2273G(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GGCAGGGACTTGTCAGAGGCC	0.522000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			28	213					0	0	0.012213	0	0
MIER2	54531	broad.mit.edu	37	19	313534	313534	+	Silent	SNP	C	C	G			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr19:313534C>G	ENST00000264819.4	-	8	775	c.765G>C	c.(763-765)ggG>ggC	p.G255G		NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	255	ELM2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.G255G(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAGCTGAGGCCCGGCCATCT	0.677000													7	110					0	0	0.003080	0	0
OR2G6	391211	broad.mit.edu	37	1	248685264	248685264	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr1:248685264G>T	ENST00000343414.4	+	1	349	c.317G>T	c.(316-318)gGg>gTg	p.G106V		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G106V(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTGGCCATGGGGTTGGGCTCG	0.542000													8	140					5.18039e-06	6.58741e-06	0.003080	1	0
CDHR1	92211	broad.mit.edu	37	10	85973997	85973997	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr10:85973997C>A	ENST00000372117.3	+	17	2303	c.2200C>A	c.(2200-2202)Ctg>Atg	p.L734M	CDHR1_ENST00000440770.2_Missense_Mutation_p.L438M|CDHR1_ENST00000332904.3_Intron	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	734					homophilic cell adhesion		calcium ion binding|receptor activity	p.L734M(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						TAACAAGGTCCTGCCAATGCG	0.642000													12	63					5.03518e-11	7.97883e-11	0.007413	1	0
TMEM132B	114795	broad.mit.edu	37	12	126137173	126137173	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr12:126137173C>A	ENST00000299308.3	+	8	2094	c.2086C>A	c.(2086-2088)Cag>Aag	p.Q696K	TMEM132B_ENST00000535886.1_Missense_Mutation_p.Q208K	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	696						integral to membrane		p.Q696K(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TCAGTCCCCACAGCAGGTGAG	0.607000													6	84					0.00198382	0.00217955	0.001984	1	0
TRMT1	55621	broad.mit.edu	37	19	13223573	13223573	+	Silent	SNP	C	C	A	rs147062421	byFrequency	TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr19:13223573C>A	ENST00000592062.1	-	8	1386	c.816G>T	c.(814-816)acG>acT	p.T272T	TRMT1_ENST00000221504.8_Silent_p.T272T|TRMT1_ENST00000437766.1_Silent_p.T272T|TRMT1_ENST00000357720.4_Silent_p.T272T			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	272							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding	p.T272T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		TGCTGTAGCACGTCTCCCCGC	0.667000													8	53					1.12685e-05	1.41543e-05	0.004482	1	0
NEB	4703	broad.mit.edu	37	2	152527689	152527689	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr2:152527689T>C	ENST00000397345.3	-	38	4556	c.4354A>G	c.(4354-4356)Att>Gtt	p.I1452V	NEB_ENST00000409198.1_Missense_Mutation_p.I1452V|NEB_ENST00000603639.1_Missense_Mutation_p.I1452V|NEB_ENST00000172853.10_Missense_Mutation_p.I1452V|NEB_ENST00000604864.1_Missense_Mutation_p.I1452V|NEB_ENST00000427231.2_Missense_Mutation_p.I1452V	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	1452					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	p.I1452V(2)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AGGGAACCAATAGGGATCCAT	0.448000													13	45					0	0	0.004007	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94791228	94791228	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr7:94791228G>C	ENST00000289495.5	+	4	1915	c.1699G>C	c.(1699-1701)Ggt>Cgt	p.G567R	PPP1R9A_ENST00000433881.1_Missense_Mutation_p.G567R|AC002429.5_ENST00000417881.2_RNA|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.G567R|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.G567R|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.G567R|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.G567R	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	567	PDZ.					cell junction|synapse|synaptosome	actin binding	p.G567R(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			CAGCTTGGTGGGTGTGACACA	0.363000										HNSCC(28;0.073)			5	33					0	0	0.000602	0	0
RASGRP3	25780	broad.mit.edu	37	2	33747045	33747045	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr2:33747045G>A	ENST00000403687.3	+	7	1132	c.392G>A	c.(391-393)aGa>aAa	p.R131K	RASGRP3_ENST00000407811.1_Missense_Mutation_p.R131K|RASGRP3_ENST00000402538.3_Missense_Mutation_p.R131K	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	131					MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity	p.R131K(1)		large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					TGGATGAGAAGAGTCACACAG	0.438000													15	124					0	0	0.002450	0	0
PRKCG	5582	broad.mit.edu	37	19	54396639	54396639	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr19:54396639G>T	ENST00000263431.3	+	9	1215	c.933G>T	c.(931-933)ttG>ttT	p.L311F	PRKCG_ENST00000540413.1_Missense_Mutation_p.L311F|PRKCG_ENST00000536044.1_Missense_Mutation_p.C282F|PRKCG_ENST00000542049.1_Missense_Mutation_p.L198F	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	311					activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	p.L311F(1)		large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		CCCTGGAATTGTATGAGGTGA	0.507000													13	63					1.36491e-13	2.33337e-13	0.001855	1	0
MUC16	94025	broad.mit.edu	37	19	9064438	9064438	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr19:9064438G>T	ENST00000397910.4	-	3	23211	c.23008C>A	c.(23008-23010)Cct>Act	p.P7670T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7672	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P7670T(2)|p.P3303T(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACACCTCCAGGACCTCTGCCC	0.527000													6	62					0.00198382	0.00217955	0.001984	1	0
CNOT7	29883	broad.mit.edu	37	8	17090038	17090038	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr8:17090038T>A	ENST00000361272.4	-	6	925	c.627A>T	c.(625-627)ttA>ttT	p.L209F	CNOT7_ENST00000523917.1_Missense_Mutation_p.L209F	NM_013354.5	NP_037486.2	Q9UIV1	CNOT7_HUMAN	CCR4-NOT transcription complex, subunit 7	209					carbohydrate metabolic process|nuclear-transcribed mRNA poly(A) tail shortening	CCR4-NOT complex|cytoplasmic mRNA processing body|cytosol	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.L209F(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)	11				Colorectal(111;0.0523)|COAD - Colon adenocarcinoma(73;0.209)		CCACCTCCTGTAATCCACCCT	0.378000													15	167					0	0	0.004007	0	0
TTLL1	25809	broad.mit.edu	37	22	43460246	43460246	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr22:43460246G>T	ENST00000331018.7	-	6	828	c.588C>A	c.(586-588)gaC>gaA	p.D196E	TTLL1_ENST00000266254.7_Missense_Mutation_p.D196E			O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	196	TTL.				protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity	p.D196E(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		ACAAGCGCAGGTCGAACTTCC	0.463000													7	84					0.000274275	0.00031653	0.004482	1	0
FRMPD3	84443	broad.mit.edu	37	X	106846206	106846206	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chrX:106846206C>A	ENST00000276185.4	+	16	5036	c.5036C>A	c.(5035-5037)gCc>gAc	p.A1679D				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	1679						cytoskeleton		p.A1728D(1)|p.A1679D(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						CGCCGTGTGGCCAATGTGGAC	0.592000													8	63					0.000157383	0.00018421	0.003080	1	0
MOSPD2	158747	broad.mit.edu	37	X	14934407	14934407	+	Silent	SNP	G	G	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chrX:14934407G>A	ENST00000380492.3	+	13	1363	c.1275G>A	c.(1273-1275)caG>caA	p.Q425Q	MOSPD2_ENST00000482354.1_Silent_p.Q425Q|MOSPD2_ENST00000495110.1_3'UTR	NM_001177475.1|NM_152581.3	NP_001170946.1|NP_689794.1	Q8NHP6	MSPD2_HUMAN	motile sperm domain containing 2	425	MSP.					integral to membrane	structural molecule activity	p.Q425Q(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	Hepatocellular(33;0.183)					AATTAACTCAGTTTTGGAAAG	0.418000													38	208					0	0	0.009718	0	0
KCNH7	90134	broad.mit.edu	37	2	163374483	163374483	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr2:163374483T>C	ENST00000332142.5	-	4	748	c.649A>G	c.(649-651)Aaa>Gaa	p.K217E	KCNH7_ENST00000328032.4_Missense_Mutation_p.K217E|KCNH7_ENST00000477019.1_5'UTR	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	217					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	p.K217E(2)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	ATCAAAGCTTTTGTGTCATCT	0.458000													19	142					0	0	0.007413	0	0
KIAA1456	57604	broad.mit.edu	37	8	12878877	12878877	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr8:12878877C>A	ENST00000524591.2	+	5	1178	c.689C>A	c.(688-690)tCt>tAt	p.S230Y	KIAA1456_ENST00000447063.2_Intron	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN	KIAA1456	230							methyltransferase activity	p.S143Y(1)|p.S230Y(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						GCAAATATTTCTAAGGAAGGC	0.423000													10	128					0.00136819	0.00152763	0.001368	1	0
IGHG4	3503	broad.mit.edu	37	14	106092170	106092170	+	RNA	SNP	C	C	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr14:106092170C>T	ENST00000390543.2	-	0	233																											TGTAGGTCTTCGTGCCCAAGC	0.612000													8	289					0	0	0.003080	0	0
LOC645752	645752	broad.mit.edu	37	15	78211193	78211193	+	RNA	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr15:78211193G>T	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							TCCTGCTTTTGTAGCCTGTCC	0.592000													11	166					1.15919e-05	1.45163e-05	0.008871	1	0
CNTNAP4	85445	broad.mit.edu	37	16	76461392	76461392	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr16:76461392G>T	ENST00000307431.8	+	5	816	c.431G>T	c.(430-432)aGa>aTa	p.R144I	CNTNAP4_ENST00000476707.1_Missense_Mutation_p.R148I|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.R120I|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.R144I	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	145	F5/8 type C.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.R120I(2)|p.R144I(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GTGTACTATAGACTCCAGCCT	0.433000													30	143					2.80507e-11	4.46212e-11	0.012213	1	0
ARHGAP31	57514	broad.mit.edu	37	3	119133448	119133448	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr3:119133448A>T	ENST00000264245.4	+	12	3204	c.2672A>T	c.(2671-2673)gAt>gTt	p.D891V		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	891					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	p.D891V(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						TGTGACGAAGATGACACTGTG	0.557000													26	124					0	0	0.004656	0	0
OR2M5	127059	broad.mit.edu	37	1	248309050	248309050	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr1:248309050A>T	ENST00000366476.1	+	1	601	c.601A>T	c.(601-603)Atc>Ttc	p.I201F		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I201F(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			GGTTCTTTTCATCTGCTGTAT	0.433000													12	402					0	0	0.001368	0	0
TG	7038	broad.mit.edu	37	8	133953768	133953768	+	Silent	SNP	C	C	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr8:133953768C>A	ENST00000220616.4	+	26	5254	c.5214C>A	c.(5212-5214)gtC>gtA	p.V1738V	TG_ENST00000377869.1_Silent_p.V1681V|TG_ENST00000542445.1_Intron	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1738					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	p.V1738V(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ATGGCTTCGTCCTCACACAGG	0.542000													13	79					0.000308642	0.000355197	0.003163	1	0
ZFP57	346171	broad.mit.edu	37	6	29640787	29640787	+	Silent	SNP	C	C	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr6:29640787C>T	ENST00000376883.1	-	6	1452	c.1041G>A	c.(1039-1041)caG>caA	p.Q347Q	ZFP57_ENST00000488757.1_Silent_p.Q367Q|ZFP57_ENST00000376881.3_Silent_p.Q347Q			Q9NU63	ZFP57_HUMAN	ZFP57 zinc finger protein	283					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding	p.Q347Q(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						ATCTGGCATCCTGACAGAGGG	0.498000													91	452					0	0	0.003610	0	0
ZNF597	146434	broad.mit.edu	37	16	3490906	3490906	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr16:3490906C>G	ENST00000301744.4	-	3	296	c.61G>C	c.(61-63)Gtg>Ctg	p.V21L	LA16c-306E5.2_ENST00000575785.1_RNA	NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN	zinc finger protein 597	21	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V21L(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						GAAAAATACACAGCCAGATCC	0.512000													12	86					0	0	0.001855	0	0
MOGS	7841	broad.mit.edu	37	2	74688860	74688860	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr2:74688860C>T	ENST00000233616.4	-	4	2218	c.2056G>A	c.(2056-2058)Gta>Ata	p.V686I	MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000452063.2_Missense_Mutation_p.V580I	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	686					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity	p.V686I(1)		cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						AGAGCATCTACATACTGCAGT	0.592000													16	131					0	0	0.006122	0	0
AIMP1	9255	broad.mit.edu	37	4	107249400	107249400	+	Splice_Site	SNP	G	G	C			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr4:107249400G>C	ENST00000394701.4	+	4	504	c.463_splice	c.e4+1	p.G155_splice	AIMP1_ENST00000358008.3_Splice_Site_p.G131_splice|AIMP1_ENST00000442366.1_Splice_Site_p.G131_splice	NM_001142416.1	NP_001135888.1	Q12904	AIMP1_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 1	131	Interaction with HSP90B1 (By similarity).|Required for endothelial cell migration.|tRNA-binding.				angiogenesis|apoptosis|cell adhesion|cell-cell signaling|chemotaxis|glucose metabolic process|inflammatory response|leukocyte migration|negative regulation of endothelial cell proliferation|signal transduction|tRNA aminoacylation for protein translation	aminoacyl-tRNA synthetase multienzyme complex|cytosol|endoplasmic reticulum|extracellular space|Golgi apparatus|nucleus|transport vesicle	cell surface binding|cytokine activity|protein homodimerization activity|tRNA binding	p.G131R(1)		breast(1)|endometrium(2)|kidney(1)|lung(5)|skin(1)|urinary_tract(1)	11						TGAAAAGAAAGGTATTTTTGA	0.318000													4	18					0	0	0.009096	0	0
SLC7A13	157724	broad.mit.edu	37	8	87242421	87242421	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr8:87242421G>T	ENST00000297524.3	-	1	189	c.86C>A	c.(85-87)gCa>gAa	p.A29E	SLC7A13_ENST00000520624.1_Intron|SLC7A13_ENST00000419776.2_Missense_Mutation_p.A29E	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	29						integral to membrane	amino acid transmembrane transporter activity	p.A29E(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						AAAAATTCCTGCACCAATGAT	0.453000													8	94					0.000157383	0.00018421	0.003080	1	0
ANO2	57101	broad.mit.edu	37	12	5687595	5687595	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr12:5687595G>T	ENST00000327087.8	-	22	2394	c.2323C>A	c.(2323-2325)Ctc>Atc	p.L775I	ANO2_ENST00000356134.5_Missense_Mutation_p.L776I|ANO2_ENST00000546188.1_Missense_Mutation_p.L776I			Q9NQ90	ANO2_HUMAN	anoctamin 2	780						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	p.L775I(1)|p.L776I(1)		central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TTTGCATCGAGCCGCACTTCA	0.547000													5	52					1.26484e-09	1.89497e-09	0.003080	1	0
SPATA31A2	642265	broad.mit.edu	37	9	39888226	39888226	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr9:39888226C>A	ENST00000456183.2	+	4	1242	c.1213C>A	c.(1213-1215)Cag>Aag	p.Q405K		NM_001040065.1	NP_001035154.1			SPATA31 subfamily A, member 2									p.Q405K(1)									TAGGCTCTGGCAGGAAAGTTT	0.532000													73	352					9.35349e-44	1.8707e-43	0.003610	1	0
LILRA3	11026	broad.mit.edu	37	19	54801976	54801976	+	Silent	SNP	G	G	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr19:54801976G>A	ENST00000391745.1	-	10	1579	c.1263C>T	c.(1261-1263)aaC>aaT	p.N421N	LILRA3_ENST00000391744.3_Silent_p.N340N|LILRA3_ENST00000251390.3_Silent_p.N404N					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3									p.N404N(1)		NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GCAGGTAGGGGTTGGAGCTGA	0.617000													19	186					0	0	0.012319	0	0
TSHZ3	57616	broad.mit.edu	37	19	31768256	31768256	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr19:31768256G>T	ENST00000240587.4	-	2	2770	c.2443C>A	c.(2443-2445)Ccg>Acg	p.P815T		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	815					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P632T(1)|p.P815T(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GAGGTTGCCGGGGCTGTGGAC	0.532000													20	82					1.10513e-12	1.82857e-12	0.002299	1	0
ADAMTS18	170692	broad.mit.edu	37	16	77317955	77317955	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr16:77317955G>T	ENST00000282849.5	-	23	3982	c.3564C>A	c.(3562-3564)tgC>tgA	p.C1188*	RP11-538I12.3_ENST00000561672.1_RNA	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1188	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.C1188*(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						AGAAATCTACGCAGGATGGAT	0.388000													6	98					0.00198382	0.00217955	0.001984	1	0
PCSK1	5122	broad.mit.edu	37	5	95761538	95761538	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr5:95761538G>A	ENST00000311106.3	-	3	619	c.382C>T	c.(382-384)Cag>Tag	p.Q128*	CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Nonsense_Mutation_p.Q81*	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	128	Catalytic.				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity	p.Q128*(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TACCATTGCTGATTCCACATG	0.408000													7	41					0	0	0.003080	0	0
CADPS	8618	broad.mit.edu	37	3	62478119	62478119	+	Silent	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr3:62478119G>T	ENST00000383710.4	-	20	3079	c.2730C>A	c.(2728-2730)gcC>gcA	p.A910A	CADPS_ENST00000283269.9_Silent_p.A920A|CADPS_ENST00000357948.3_Silent_p.A880A	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	910	Interaction with DRD2.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	p.A920A(1)|p.A910A(1)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		ACCACGCAAAGGCCTTTAAAA	0.448000													21	504					1.10513e-12	1.82857e-12	0.002299	1	0
RPGR	6103	broad.mit.edu	37	X	38132681	38132681	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chrX:38132681G>T	ENST00000339363.3	-	17	2981	c.2814C>A	c.(2812-2814)aaC>aaA	p.N938K	RPGR_ENST00000309513.3_Missense_Mutation_p.N671K|RPGR_ENST00000318842.7_Missense_Mutation_p.N733K|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000338898.3_3'UTR			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	938					intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding	p.N733K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						TTGTTTCACTGTTTTCTAGGA	0.299000													5	32					8.12818e-05	9.7633e-05	0.001984	1	0
ZCCHC5	203430	broad.mit.edu	37	X	77913592	77913592	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chrX:77913592G>A	ENST00000321110.1	-	2	621	c.326C>T	c.(325-327)cCa>cTa	p.P109L		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	109	Pro-rich.						nucleic acid binding|zinc ion binding	p.P109L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TGGGGCTGCTGGGGCCTCCTG	0.637000													13	43					0	0	0.001855	0	0
RGS5	8490	broad.mit.edu	37	1	163138073	163138073	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr1:163138073G>T	ENST00000313961.5	-	2	407	c.130C>A	c.(130-132)Cca>Aca	p.P44T	RGS5_ENST00000530507.1_Missense_Mutation_p.P44T|RGS5_ENST00000534288.1_5'UTR|RGS5_ENST00000527988.1_Intron|RGS5_ENST00000367903.3_Missense_Mutation_p.P64T|RP11-267N12.1_ENST00000415437.1_RNA	NM_001254749.1|NM_003617.3	NP_001241678.1|NP_003608.1	O15539	RGS5_HUMAN	regulator of G-protein signaling 5	44					negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.P44K(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20			LUSC - Lung squamous cell carcinoma(543;0.187)			GGTTTCTCTGGCTTCTCATTG	0.458000													31	132					1.36615e-20	2.5701e-20	0.002836	1	0
CSTF2	1478	broad.mit.edu	37	X	100086550	100086550	+	Silent	SNP	T	T	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chrX:100086550T>A	ENST00000415585.2	+	10	1018	c.996T>A	c.(994-996)ccT>ccA	p.P332P	CSTF2_ENST00000372972.2_Silent_p.P312P|CSTF2_ENST00000486615.1_3'UTR			P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa	312	Gly/Pro-rich.				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|RNA binding	p.P312P(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						GATCCTTGCCTGCGAATGTCC	0.527000													16	245					0	0	0.006122	0	0
SLIT3	6586	broad.mit.edu	37	5	168180932	168180932	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr5:168180932G>A	ENST00000519560.1	-	17	2185	c.1766C>T	c.(1765-1767)aCa>aTa	p.T589I	SLIT3_ENST00000404867.3_Missense_Mutation_p.T589I|SLIT3_ENST00000332966.8_Missense_Mutation_p.T589I	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	589					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	p.T589I(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTGGTTCCCTGTCAGCATCAG	0.572000													11	34					0	0	0.010729	0	0
FAM13C	220965	broad.mit.edu	37	10	61112108	61112108	+	Silent	SNP	G	G	C			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr10:61112108G>C	ENST00000277705.6	-	3	347	c.246C>G	c.(244-246)ccC>ccG	p.P82P	FAM13C_ENST00000373868.2_Silent_p.P82P|FAM13C_ENST00000435852.2_Silent_p.P82P|FAM13C_ENST00000419214.2_Silent_p.P82P|FAM13C_ENST00000373867.3_5'UTR|FAM13C_ENST00000442566.3_Silent_p.P82P|FAM13C_ENST00000468840.2_5'UTR|FAM13C_ENST00000422313.2_Silent_p.P82P			Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	82			P -> H (in dbSNP:rs17853626).					p.P82P(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TGCCCATGCTGGGTCGCAATA	0.612000													10	78					0	0	0.008291	0	0
OR1L8	138881	broad.mit.edu	37	9	125330565	125330565	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr9:125330565C>A	ENST00000304865.2	-	1	273	c.192G>T	c.(190-192)ttG>ttT	p.L64F		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L64F(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						ACAGAAAACTCAAGAAGAAAT	0.463000													9	81					0.000274275	0.00031653	0.004482	1	0
UGT2B4	7363	broad.mit.edu	37	4	70361472	70361472	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr4:70361472C>A	ENST00000305107.6	-	1	154	c.108G>T	c.(106-108)tgG>tgT	p.W36C	UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_Missense_Mutation_p.W36C|UGT2B4_ENST00000381096.3_Intron	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	36					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.W36C(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						TTATATTCATCCAGTGGCTGA	0.468000													13	189					0.000151284	0.000179107	0.001855	1	0
PTPRN2	5799	broad.mit.edu	37	7	157929352	157929352	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr7:157929352G>T	ENST00000389413.3	-	8	1271	c.1168C>A	c.(1168-1170)Caa>Aaa	p.Q390K	PTPRN2_ENST00000404321.2_Missense_Mutation_p.Q413K|PTPRN2_ENST00000409483.1_Missense_Mutation_p.Q352K|PTPRN2_ENST00000389418.4_Missense_Mutation_p.Q390K|PTPRN2_ENST00000389416.4_Missense_Mutation_p.Q373K	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	390						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.Q390K(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CTTACCTCTTGGTAAAGTCTA	0.413000													24	114					3.73148e-12	6.07656e-12	0.007291	1	0
OOEP	441161	broad.mit.edu	37	6	74078997	74078997	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr6:74078997C>A	ENST00000370363.1	-	3	629	c.137G>T	c.(136-138)cGt>cTt	p.R46L	OOEP_ENST00000370359.5_Missense_Mutation_p.R101L			A6NGQ2	OOEP_HUMAN	oocyte expressed protein	101						cytoplasm		p.R101L(1)		large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8						ATTCTGTACACGGGGCCGCCC	0.557000													6	37					2.17888e-05	2.69579e-05	0.006214	1	0
RRAGB	10325	broad.mit.edu	37	X	55784734	55784734	+	Silent	SNP	G	G	C			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chrX:55784734G>C	ENST00000374941.4	+	10	1588	c.999G>C	c.(997-999)ctG>ctC	p.L333L	RRAGB_ENST00000262850.7_Silent_p.L361L	NM_006064.4	NP_006055.3	Q5VZM2	RRAGB_HUMAN	Ras-related GTP binding B	361					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|signal transduction	Golgi apparatus|lysosome|nucleus	GTP binding|protein binding	p.L361L(1)		breast(1)|endometrium(3)|large_intestine(5)|lung(3)|pancreas(1)|prostate(1)	14						TTGAAAAGCTGGAAAGAGTGG	0.423000													3	19					0	0	0.009096	0	0
CXXC11	285093	broad.mit.edu	37	2	242814448	242814448	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr2:242814448C>A	ENST00000343216.3	+	2	769	c.741C>A	c.(739-741)ttC>ttA	p.F247L		NM_173821.2	NP_776182.2	Q14D33	CB085_HUMAN	CXXC finger protein 11	247						integral to membrane		p.F247L(1)									GCTCCATCTTCCTGTCTGGGG	0.692000													7	38					1.12685e-05	1.41543e-05	0.004482	1	0
CNTD1	124817	broad.mit.edu	37	17	40958759	40958759	+	Silent	SNP	C	C	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr17:40958759C>T	ENST00000588408.1	+	5	924	c.648C>T	c.(646-648)gtC>gtT	p.V216V	CNTD1_ENST00000588527.1_Silent_p.V133V|CNTD1_ENST00000315066.5_3'UTR	NM_173478.2	NP_775749.2	Q8N815	CNTD1_HUMAN	cyclin N-terminal domain containing 1	216								p.V216V(1)		central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TCGACCTGGTCTATCTTCTGC	0.488000													17	164					0	0	0.007413	0	0
CYP3A5	1577	broad.mit.edu	37	7	99262907	99262907	+	Silent	SNP	A	A	G			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr7:99262907A>G	ENST00000343703.5	-	8	908	c.522T>C	c.(520-522)atT>atC	p.I174I	CYP3A5_ENST00000339843.2_3'UTR|CYP3A5_ENST00000222982.4_Silent_p.I184I					cytochrome P450, family 3, subfamily A, polypeptide 5									p.I184I(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)					ATGTGCCAGTAATCACATCCA	0.428000													21	124					0	0	0.002780	0	0
TANC2	26115	broad.mit.edu	37	17	61498459	61498459	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr17:61498459C>T	ENST00000424789.2	+	25	5120	c.5116C>T	c.(5116-5118)Cga>Tga	p.R1706*	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Nonsense_Mutation_p.R1716*	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1706							binding	p.R1716*(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CTCAGCATACCGAGGTGGCGT	0.567000													19	279					0	0	0.007413	0	0
GALNT15	117248	broad.mit.edu	37	3	16254176	16254176	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr3:16254176delC	ENST00000339732.5	+	6	1801	c.1298delC	c.(1297-1299)acfs	p.T433fs	GALNT15_ENST00000437509.1_Frame_Shift_Del_p.T433fs	NM_054110.4	NP_473451.3			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15																		CAGGAGGCCACCCTGAGGAAC	0.552													39	165	---	---	---	---					
UROC1	131669	broad.mit.edu	37	3	126220105	126220106	+	Frame_Shift_Ins	INS	-	-	T			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr3:126220105_126220106insT	ENST00000290868.2	-	10	973_974	c.920_921insA	c.(919-921)agafs	p.R307fs	UROC1_ENST00000383579.3_Frame_Shift_Ins_p.R367fs	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	307					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		TGAGCACCTCCTTTTTTTTCCT	0.584													8	374	---	---	---	---					
ADD1	118	broad.mit.edu	37	4	2930188	2930190	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr4:2930188_2930190delAAG	ENST00000264758.7	+	15	2433_2435	c.2245_2247delAAG	c.(2245-2247)del	p.K752del	ADD1_ENST00000355842.3_3'UTR|ADD1_ENST00000446856.1_In_Frame_Del_p.K721del|ADD1_ENST00000398123.2_3'UTR|ADD1_ENST00000398125.1_3'UTR|ADD1_ENST00000513328.2_3'UTR|ADD1_ENST00000398129.1_In_Frame_Del_p.K721del|ADD1_ENST00000503455.2_3'UTR	NM_014189.3	NP_054908.2	P35611	ADDA_HUMAN	adducin 1 (alpha)	721					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCCGTCCAAAAAGAAGAAGAAGT	0.626													20	266	---	---	---	---					
LINC00504	201853	broad.mit.edu	37	4	14562533	14562536	+	RNA	DEL	GAAG	GAAG	-	rs140455372		TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr4:14562533_14562536delGAAG	ENST00000505089.1	-	0	461																											agggagggaagaaggaaggaagga	0.422													3	4	---	---	---	---					
RNF144B	255488	broad.mit.edu	37	6	18399839	18399839	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr6:18399839delC	ENST00000259939.3	+	2	391	c.74delC	c.(73-75)gcfs	p.A25fs	RNF144B_ENST00000486622.1_3'UTR|RNF144B_ENST00000429054.2_Intron	NM_182757.3	NP_877434.2	Q7Z419	R144B_HUMAN	ring finger protein 144B	25					apoptosis|positive regulation of anti-apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)	11	Ovarian(93;0.00365)|Breast(50;0.0145)	all_hematologic(90;0.0536)	OV - Ovarian serous cystadenocarcinoma(7;0.00165)|all cancers(50;0.0102)|Epithelial(50;0.0105)			CTGGCTCCGGCCCCCCTCATC	0.537													18	93	---	---	---	---					
HOXA11-AS	221883	broad.mit.edu	37	7	27224977	27224978	+	RNA	INS	-	-	T	rs67321459		TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr7:27224977_27224978insT	ENST00000522863.1	+	0	574				HOXA11-AS_ENST00000520360.1_RNA																							CCCCCCTTTCCTTTTTTTTTTT	0.530											OREG0003746|OREG0003747	type=REGULATORY REGION|Gene=BC025338|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|Gene=HOXA11|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	2	4	---	---	---	---					
LINC00987	100499405	broad.mit.edu	37	12	9392739	9392740	+	RNA	INS	-	-	TCTTCCTCCTCC	rs71045240		TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr12:9392739_9392740insTCTTCCTCCTCC	ENST00000427111.3	+	0	141_142					NR_036466.1																						caccatcaccttcttcctcccc	0.545													4	8	---	---	---	---					
CYP1A1	1543	broad.mit.edu	37	15	75013022	75013022	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr15:75013022delG	ENST00000379727.3	-	7	1545	c.1347delC	c.(1345-1347)atfs	p.I449fs	CYP1A1_ENST00000395048.2_Frame_Shift_Del_p.I449fs|CYP1A1_ENST00000395049.4_Frame_Shift_Del_p.I420fs|CYP1A1_ENST00000567032.1_Frame_Shift_Del_p.I449fs			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	449					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	CCATGCCAAAGATAATCACCT	0.522									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				21	238	---	---	---	---					
RLTPR	146206	broad.mit.edu	37	16	67683455	67683455	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr16:67683455delG	ENST00000334583.6	+	20	2180	c.1852delG	c.(1852-1854)gcfs	p.G618fs	RLTPR_ENST00000545661.1_Frame_Shift_Del_p.G582fs	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	618	Tropomodulin-like.									breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GGATATCAGCGGCAACGCCAT	0.682													7	77	---	---	---	---					
MYBPC2	4606	broad.mit.edu	37	19	50957526	50957526	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr19:50957526delC	ENST00000357701.5	+	18	1965	c.1914delC	c.(1912-1914)gtfs	p.V638fs		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	638	Ig-like C2-type 5.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CTGCAGATGTCCCAGACCCCC	0.642													10	74	---	---	---	---					
SIGLEC6	946	broad.mit.edu	37	19	52023487	52023487	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr19:52023487delG	ENST00000346477.3	-	7	1231	c.1163delC	c.(1162-1164)aafs	p.T388fs	SIGLEC6_ENST00000436458.1_Frame_Shift_Del_p.T352fs|SIGLEC6_ENST00000474054.1_5'UTR|SIGLEC6_ENST00000359982.4_Frame_Shift_Del_p.Q388fs|CTD-3073N11.9_ENST00000598220.1_RNA|SIGLEC6_ENST00000391797.3_Frame_Shift_Del_p.D334fs|SIGLEC6_ENST00000343300.4_Frame_Shift_Del_p.D345fs|SIGLEC6_ENST00000425629.3_Frame_Shift_Del_p.T404fs	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	404					cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		AACTATGCCTGTCTGGAACTG	0.502													23	320	---	---	---	---					
FAM209A	200232	broad.mit.edu	37	20	55100858	55100882	+	Splice_Site	DEL	AGGAGCAGAGTCCTCCTGGCCTTCG	AGGAGCAGAGTCCTCCTGGCCTTCG	-			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr20:55100858_55100882delAGGAGCAGAGTCCTCCTGGCCTTCG	ENST00000371328.3	+	2	572_595	c.249_splice	c.e2-1	p.K83_splice	FAM209A_ENST00000481560.1_3'UTR|GCNT7_ENST00000243913.4_5'UTR	NM_001012971.3	NP_001012989.2			family with sequence similarity 209, member A																		CTTTCCTGACAGGAGCAGAGTCCTCCTGGCCTTCGAGGCGGCCAA	0.436													19	498	---	---	---	---					
FAM209B	388799	broad.mit.edu	37	20	55108453	55108461	+	In_Frame_Del	DEL	CCTTTATGT	CCTTTATGT	-			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chr20:55108453_55108461delCCTTTATGT	ENST00000371325.1	+	1	152_160	c.56_64delCCTTTATGT	c.(55-66)gtc>g	p.AFMF19del		NM_001013646.2	NP_001013668.2	Q5JX69	CT107_HUMAN	family with sequence similarity 209, member B	19						integral to membrane											TGCAGCTATGCCTTTATGTTCTCTTCTCT	0.550													39	321	---	---	---	---					
FAM47A	158724	broad.mit.edu	37	X	34149308	34149309	+	Frame_Shift_Ins	INS	-	-	A			TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chrX:34149308_34149309insA	ENST00000346193.3	-	1	1138_1139	c.1087_1088insT	c.(1087-1089)cctfs	p.P363fs		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	363										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						AGGCGCTAGGCGGAGACGGGAC	0.639													11	84	---	---	---	---					
FTX	100302692	broad.mit.edu	37	X	73506653	73506654	+	RNA	INS	-	-	A	rs149262205		TCGA-05-4430-01A-02D-1265-08	TCGA-05-4430-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23398531-3f4c-45e6-980b-755165c04974	00df5c73-c2a7-47b4-8007-e7042ce81305	g.chrX:73506653_73506654insA	ENST00000429124.1	-	0	174																											acctgtcccttaaaaaaaaaaa	0.455													6	7	---	---	---	---					
